Variant report

Variant	esv3406346
Chromosome Location	chr17:59476220-59479068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:332)
CpG islands
(count:1466)
Chromatin interactive
region (count:149)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:59476802-59476913	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:59476167-59476317	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr17:59477044-59477103	Hela-S3	cervix:	n/a	chr17:59477047-59477054
4	BRCA1	chr17:59476468-59476498	HepG2	liver:	n/a	n/a
5	CEBPB	chr17:59476697-59477251	Hela-S3	cervix:	n/a	n/a
6	CEBPD	chr17:59476672-59477390	HepG2	liver:	n/a	n/a
7	CHD2	chr17:59476301-59477937	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr17:59476771-59476909	HepG2	liver:	n/a	n/a
9	CREB1	chr17:59476584-59477471	A549	lung:	n/a	n/a
10	CREB1	chr17:59475839-59477503	HepG2	liver:	n/a	n/a
11	CTBP2	chr17:59478138-59479685	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr17:59474838-59477174	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr17:59476770-59476851	ProgFib	skin:	n/a	n/a
14	CTCF	chr17:59476740-59476890	HepG2	liver:	n/a	n/a
15	CTCF	chr17:59477100-59477250	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr17:59476680-59476830	HEK293	kidney:	n/a	chr17:59476713-59476726
17	CTCF	chr17:59477840-59477990	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr17:59476755-59476860	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr17:59477771-59477937	MCF-7	breast:	n/a	n/a
20	CTCF	chr17:59477040-59477190	BJ	skin:	n/a	n/a
21	CTCF	chr17:59477000-59477150	AG09309	skin:	n/a	n/a
22	CTCF	chr17:59476730-59476868	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr17:59476720-59476870	Caco-2	colon:	n/a	n/a
24	CTCF	chr17:59476804-59476814	NHEK	skin:	n/a	n/a
25	CTCF	chr17:59477819-59477907	Fibrobl	skin:	n/a	n/a
26	CTCF	chr17:59476640-59476790	NHDF-neo	bronchial:	n/a	chr17:59476713-59476726
27	CTCF	chr17:59476572-59476909	HepG2	liver:	n/a	chr17:59476602-59476615 chr17:59476713-59476726
28	CTCF	chr17:59477040-59477190	AG04449	skin:	n/a	n/a
29	CTCF	chr17:59476680-59476830	HPF	lung:	n/a	chr17:59476713-59476726
30	CTCF	chr17:59476760-59476910	AG09319	gingival:	n/a	n/a
31	CTCF	chr17:59477800-59477923	A549	lung:	n/a	n/a
32	CTCF	chr17:59477080-59477230	AG09319	gingival:	n/a	n/a
33	CTCF	chr17:59476755-59477278	IMR90	lung:	n/a	n/a
34	CTCF	chr17:59476732-59476761	HepG2	liver:	n/a	n/a
35	CTCF	chr17:59476775-59476839	MCF-7	breast:	n/a	n/a
36	CTCF	chr17:59476700-59476850	WERI-Rb-1	eye:	n/a	chr17:59476713-59476726
37	CTCF	chr17:59477821-59477892	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr17:59476540-59476830	AG04449	skin:	n/a	chr17:59476564-59476577 chr17:59476602-59476615 chr17:59476713-59476726
39	CTCF	chr17:59478180-59478470	AG04449	skin:	n/a	chr17:59478338-59478347
40	CTCF	chr17:59476740-59476890	AG09319	gingival:	n/a	n/a
41	CTCF	chr17:59477040-59477190	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr17:59476680-59476830	WERI-Rb-1	eye:	n/a	chr17:59476713-59476726
43	CTCF	chr17:59476680-59476830	SK-N-SH_RA	brain:	n/a	chr17:59476713-59476726
44	CTCF	chr17:59477814-59477907	MCF-7	breast:	n/a	n/a
45	CTCF	chr17:59476766-59476822	HepG2	liver:	n/a	n/a
46	CTCF	chr17:59476644-59476832	T-47D	breast:	n/a	chr17:59476713-59476726
47	CTCF	chr17:59478800-59478950	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr17:59477792-59477919	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:59477765-59477939	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:59478880-59479030	SK-N-SH_RA	brain:	n/a	n/a

(count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:59477146-59477196	HEEpiC	esophagus:	n/a
2	chr17:59478953-59479003	HRE	kidney:	n/a
3	chr17:59477146-59477196	HEEpiC	esophagus:	n/a
4	chr17:59478953-59479003	HRE	kidney:	n/a
5	chr17:59477564-59477614	HMEC	breast:	n/a
6	chr17:59477220-59477270	HPAEpiC	pulmonary alveolar:	n/a
7	chr17:59477203-59477253	CMK	blood:	n/a
8	chr17:59478450-59478500	PANC-1	pancreas:	n/a
9	chr17:59478953-59479003	HAEpiC	amniotic membrane:	n/a
10	chr17:59477564-59477614	HCF	heart:	n/a
11	chr17:59477172-59477222	U87	brain:	n/a
12	chr17:59478450-59478500	HAEpiC	amniotic membrane:	n/a
13	chr17:59477019-59477069	ovcar-3	ovarian:	n/a
14	chr17:59477846-59477896	SKMC	muscle:	n/a
15	chr17:59477203-59477253	Jurkat	blood:	n/a
16	chr17:59478953-59479003	HEEpiC	esophagus:	n/a
17	chr17:59477172-59477222	MCF-7	breast:	n/a
18	chr17:59476505-59476555	SK-N-MC	brain:	n/a
19	chr17:59478953-59479003	HMEC	breast:	n/a
20	chr17:59478450-59478500	HCM	heart:	n/a
21	chr17:59477027-59477077	U87	brain:	n/a
22	chr17:59477220-59477270	AG04450	lung:	fetal
23	chr17:59476859-59476909	HRPEpiC	eye:	n/a
24	chr17:59478953-59479003	MCF10A-Er-Src	breast:	n/a
25	chr17:59476212-59476262	U87	brain:	n/a
26	chr17:59477027-59477077	HCM	heart:	n/a
27	chr17:59476859-59476909	HRCEpiC	kidney:	n/a
28	chr17:59476334-59476384	AG09319	gingival:	n/a
29	chr17:59478194-59478244	HepG2	liver:	n/a
30	chr17:59478068-59478118	SK-N-SH	brain:	n/a
31	chr17:59477027-59477077	LNCaP	prostate:	n/a
32	chr17:59476859-59476909	NHDF-neo	bronchial:	n/a
33	chr17:59477019-59477069	NHDF-neo	bronchial:	n/a
34	chr17:59478579-59478629	HCF	heart:	n/a
35	chr17:59476334-59476384	HepG2	liver:	n/a
36	chr17:59477286-59477336	HRE	kidney:	n/a
37	chr17:59477112-59477162	HEK293	kidney:	embryo
38	chr17:59478958-59479008	LNCaP	prostate:	n/a
39	chr17:59477112-59477162	NB4	blood:	n/a
40	chr17:59477266-59477316	HAEpiC	amniotic membrane:	n/a
41	chr17:59478194-59478244	GM06990	blood:	n/a
42	chr17:59477081-59477131	PrEC	prostate:	n/a
43	chr17:59478194-59478244	HRE	kidney:	n/a
44	chr17:59478194-59478244	HL-60	blood:	n/a
45	chr17:59476334-59476384	NB4	blood:	n/a
46	chr17:59476505-59476555	ovcar-3	ovarian:	n/a
47	chr17:59476212-59476262	AG10803	skin:	n/a
48	chr17:59476334-59476384	AG04450	lung:	fetal
49	chr17:59477286-59477336	HEK293	kidney:	embryo
50	chr17:59476790-59476840	NHDF-neo	bronchial:	n/a

(count:149 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr17:59468469..59482635-chr20:45977748..45992950,51	MCF-7	breast:
2	chr17:59477876..59478765-chr20:49406499..49407614,3	MCF-7	breast:
3	chr17:58963859..58966065-chr17:59476840..59479002,2	MCF-7	breast:
4	chr17:59476525..59477051-chr17:59486019..59486872,2	MCF-7	breast:
5	chr17:59476586..59479504-chr20:45944218..45947716,4	MCF-7	breast:
6	chr17:58603002..58605002-chr17:59476396..59478365,2	MCF-7	breast:
7	chr17:59474996..59480161-chr20:52556121..52561884,6	MCF-7	breast:
8	chr17:59477732..59478309-chr17:59660703..59661411,2	MCF-7	breast:
9	chr17:59478017..59478808-chr20:49411353..49411946,2	MCF-7	breast:
10	chr17:59475732..59477627-chr6:26249790..26252547,2	MCF-7	breast:
11	chr12:1799825..1801584-chr17:59476233..59479039,2	MCF-7	breast:
12	chr17:58037859..58039805-chr17:59478183..59480343,2	MCF-7	breast:
13	chr17:59476750..59477936-chr20:49410738..49412069,5	MCF-7	breast:
14	chr17:59475519..59479534-chr20:45977874..45982127,5	MCF-7	breast:
15	chr1:45985941..45987722-chr17:59477306..59479148,2	MCF-7	breast:
16	chr17:59476916..59479068-chr4:16227271..16228837,2	MCF-7	breast:
17	chr17:57914749..57915447-chr17:59476989..59478273,3	MCF-7	breast:
18	chr17:59476469..59479007-chr7:2593916..2596803,2	MCF-7	breast:
19	chr17:59475424..59477286-chr9:130741425..130743853,3	MCF-7	breast:
20	chr17:59475062..59478026-chr20:39655651..39657666,2	MCF-7	breast:
21	chr17:59475970..59478357-chr6:30028344..30030119,2	MCF-7	breast:
22	chr17:59476370..59478594-chr2:24298301..24300623,2	MCF-7	breast:
23	chr17:59477279..59479183-chr17:59870460..59872520,2	MCF-7	breast:
24	chr1:115299188..115301953-chr17:59475325..59477891,2	MCF-7	breast:
25	chr14:59950680..59952584-chr17:59476205..59479170,2	MCF-7	breast:
26	chr17:59476079..59477930-chr2:25194673..25196791,2	MCF-7	breast:
27	chr17:59476812..59478629-chr19:33071471..33073536,2	MCF-7	breast:
28	chr17:56707939..56709505-chr17:59478696..59480864,2	MCF-7	breast:
29	chr17:59476722..59478880-chr17:73780911..73783246,2	MCF-7	breast:
30	chr17:59475462..59478386-chr17:59485811..59488031,27	MCF-7	breast:
31	chr17:59478442..59480320-chr2:227663816..227665961,2	MCF-7	breast:
32	chr17:59476138..59477780-chr3:64007387..64010093,2	MCF-7	breast:
33	chr17:59476206..59478986-chr17:59937418..59941494,6	MCF-7	breast:
34	chr11:65190161..65193929-chr17:59476956..59480011,3	MCF-7	breast:
35	chr10:101379177..101382119-chr17:59476299..59478201,2	MCF-7	breast:
36	chr15:71407064..71409343-chr17:59476860..59479120,2	MCF-7	breast:
37	chr17:56735328..56738474-chr17:59474554..59477882,3	MCF-7	breast:
38	chr17:59477651..59479888-chr6:89671941..89673981,2	MCF-7	breast:
39	chr17:59476933..59478370-chr20:49410741..49412054,5	MCF-7	breast:
40	chr17:59477427..59479626-chr17:59488065..59490134,11	MCF-7	breast:
41	chr17:59474707..59482954-chr20:45984179..45991970,21	MCF-7	breast:
42	chr17:59477552..59479078-chr6:32935128..32937807,2	MCF-7	breast:
43	chr16:2199599..2201904-chr17:59476660..59478915,2	MCF-7	breast:
44	chr17:57183794..57185492-chr17:59476524..59479346,2	MCF-7	breast:
45	chr17:59477261..59479812-chr7:115849436..115851792,2	MCF-7	breast:
46	chr17:59475836..59478140-chr4:140476860..140478447,2	MCF-7	breast:
47	chr17:59474584..59479937-chr20:48725175..48731303,15	MCF-7	breast:
48	chr17:59475016..59476729-chr20:52744400..52746392,3	MCF-7	breast:
49	chr17:59474806..59476625-chr20:45952325..45954031,2	MCF-7	breast:
50	chr17:59447417..59500105-chr20:49391742..49424382,639	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NACA2-2	chr17:59476600-59476949	ENSG00000267280.1
2	lnc-NACA2-2	chr17:59476398-59477096	XLOC_012542
3	lnc-NACA2-5	chr17:59477577-59477604	ENSG00000267131.1
4	lnc-NACA2-2	chr17:59476600-59476780	XLOC_012542
5	lnc-NACA2-2	chr17:59476600-59476731	ENSG00000267280.1
6	lnc-NACA2-2	chr17:59476398-59476967	ENSG00000267280.1

No data

Variant related genes	Relation type
TBX2	TF binding region
ENSG00000267131	TF binding region
ENSG00000267280	TF binding region
TBX2	CpG island
ENSG00000267131	CpG island
ENSG00000267280	CpG island
ENSG00000272953	chromatin interactions
ENSG00000263327	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000244687	chromatin interactions
ENSG00000266163	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000223725	chromatin interactions
ENSG00000139718	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000116489	chromatin interactions
ENSG00000170525	chromatin interactions
ENSG00000111206	chromatin interactions
ENSG00000115677	chromatin interactions
ENSG00000244300	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000185278	chromatin interactions
ENSG00000006831	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000231437	chromatin interactions
ENSG00000158805	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000145391	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000127838	chromatin interactions
ENSG00000167106	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000184402	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000198162	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000172939	chromatin interactions
ENSG00000174136	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000105185	chromatin interactions
ENSG00000273451	chromatin interactions
ENSG00000111880	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000041357	chromatin interactions
ENSG00000213614	chromatin interactions
ENSG00000171385	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000260339	chromatin interactions
ENSG00000062650	chromatin interactions
ENSG00000144401	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000077454	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000132478	chromatin interactions
ENSG00000258947	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000224165	chromatin interactions
ENSG00000124126	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000169047	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000204257	chromatin interactions
ENSG00000106009	chromatin interactions
ENSG00000130703	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000115137	chromatin interactions
ENSG00000153107	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000196420	chromatin interactions
ENSG00000141376	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000115128	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000260475	chromatin interactions
ENSG00000198900	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000212694	chromatin interactions
ENSG00000103342	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000068650	chromatin interactions
ENSG00000075399	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000125520	chromatin interactions
ENSG00000254024	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000066379	chromatin interactions
ENSG00000224532	chromatin interactions
ENSG00000256316	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000176105	chromatin interactions
ENSG00000135269	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000226155	chromatin interactions
ENSG00000122692	chromatin interactions
ENSG00000272622	chromatin interactions
ENSG00000171792	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000175895	chromatin interactions
ENSG00000167964	chromatin interactions
ENSG00000118260	chromatin interactions
ENSG00000050130	chromatin interactions
ENSG00000179348	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000167685	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000177169	chromatin interactions
ENSG00000155287	chromatin interactions
ENSG00000106336	chromatin interactions
ENSG00000169762	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000225362	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000272717	chromatin interactions
ENSG00000197459	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000259006	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000155506	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000227896	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000061938	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000231119	chromatin interactions
ENSG00000219626	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000119397	chromatin interactions
ENSG00000101182	chromatin interactions
ENSG00000078246	chromatin interactions
ENSG00000172137	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000136950	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000267882	chromatin interactions
ENSG00000170836	chromatin interactions
ENSG00000246763	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000199787	chromatin interactions
KLHL3	miRNA target sites

Extended variants
information (count: 101 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568560613	chr17:59476235-59476236	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	84 gene(s)	Overlapped CNVs	n/a
2	rs370423794	chr17:59476275-59476276	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	86 gene(s)	Overlapped CNVs	n/a
3	rs534222365	chr17:59476277-59476278	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	86 gene(s)	Overlapped CNVs	n/a
4	rs183889790	chr17:59476295-59476296	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	86 gene(s)	Overlapped CNVs	n/a
5	rs113372673	chr17:59476301-59476302	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	88 gene(s)	Overlapped CNVs	n/a
6	rs569550085	chr17:59476307-59476308	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	88 gene(s)	Overlapped CNVs	n/a
7	rs73991913	chr17:59476316-59476317	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	93 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1476781	chr17:59476415-59476416	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	102 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9913766	chr17:59476431-59476432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	103 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570530681	chr17:59476463-59476464	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	103 gene(s)	Overlapped CNVs	n/a
11	rs570274868	chr17:59476478-59476479	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	105 gene(s)	Overlapped CNVs	n/a
12	rs535659400	chr17:59476492-59476493	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	105 gene(s)	Overlapped CNVs	n/a
13	rs544478185	chr17:59476506-59476507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	Overlapped CNVs	n/a
14	rs4455026	chr17:59476510-59476511	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539862445	chr17:59476556-59476557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	112 gene(s)	Overlapped CNVs	n/a
16	rs553315564	chr17:59476581-59476582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	112 gene(s)	Overlapped CNVs	n/a
17	rs140176607	chr17:59476583-59476584	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	112 gene(s)	Overlapped CNVs	n/a
18	rs546032616	chr17:59476639-59476640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	114 gene(s)	Overlapped CNVs	n/a
19	rs188207072	chr17:59476695-59476696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	116 gene(s)	Overlapped CNVs	n/a
20	rs562783686	chr17:59476722-59476723	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	118 gene(s)	Overlapped CNVs	n/a
21	rs542033810	chr17:59476736-59476737	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	119 gene(s)	Overlapped CNVs	n/a
22	rs562195316	chr17:59476771-59476772	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	118 gene(s)	Overlapped CNVs	n/a
23	rs527759939	chr17:59476791-59476792	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	118 gene(s)	Overlapped CNVs	n/a
24	rs547830194	chr17:59476856-59476857	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	120 gene(s)	Overlapped CNVs	n/a
25	rs570777008	chr17:59476860-59476861	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	Overlapped CNVs	n/a
26	rs2286524	chr17:59476892-59476893	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	120 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550488858	chr17:59476929-59476930	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	123 gene(s)	Overlapped CNVs	n/a
28	rs577702577	chr17:59476946-59476947	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	123 gene(s)	Overlapped CNVs	n/a
29	rs535680738	chr17:59476957-59476958	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	124 gene(s)	Overlapped CNVs	n/a
30	rs555512138	chr17:59476959-59476960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	124 gene(s)	Overlapped CNVs	n/a
31	rs567829853	chr17:59476983-59476984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	125 gene(s)	Overlapped CNVs	n/a
32	rs545126163	chr17:59477013-59477014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	125 gene(s)	Overlapped CNVs	n/a
33	rs533600655	chr17:59477100-59477101	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	126 gene(s)	Overlapped CNVs	n/a
34	rs553493970	chr17:59477103-59477104	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	126 gene(s)	Overlapped CNVs	n/a
35	rs576819971	chr17:59477112-59477113	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	126 gene(s)	Overlapped CNVs	n/a
36	rs545473916	chr17:59477144-59477145	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	127 gene(s)	Overlapped CNVs	n/a
37	rs556456024	chr17:59477167-59477168	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	130 gene(s)	Overlapped CNVs	n/a
38	rs576238252	chr17:59477241-59477242	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
39	rs542070549	chr17:59477270-59477271	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	135 gene(s)	Overlapped CNVs	n/a
40	rs561833087	chr17:59477357-59477358	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	136 gene(s)	Overlapped CNVs	n/a
41	rs113313819	chr17:59477412-59477413	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	136 gene(s)	Overlapped CNVs	n/a
42	rs113187885	chr17:59477413-59477414	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	136 gene(s)	Overlapped CNVs	n/a
43	rs527788664	chr17:59477515-59477516	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
44	rs112990883	chr17:59477523-59477524	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
45	rs1057976	chr17:59477556-59477557	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	133 gene(s)	Overlapped CNVs	n/a
46	rs372758653	chr17:59477636-59477637	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	135 gene(s)	Overlapped CNVs	n/a
47	rs539663160	chr17:59477723-59477724	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	135 gene(s)	Overlapped CNVs	n/a
48	rs564411433	chr17:59477737-59477738	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
49	rs533394938	chr17:59477743-59477744	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	134 gene(s)	Overlapped CNVs	n/a
50	rs549885020	chr17:59477765-59477766	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	136 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21467264	CNVD
Ovarian neoplasms	16753589	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sezary syndrome	18413736	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Autism	22102821	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59473400-59476400	Bivalent Enhancer	Brain Germinal Matrix	brain
2	chr17:59473400-59477000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr17:59473400-59479800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr17:59473600-59476400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr17:59473600-59477400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:59474200-59476400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:59474200-59479000	Active TSS	Aorta	Aorta
8	chr17:59474200-59481000	Active TSS	NHDF-Ad	bronchial
9	chr17:59474400-59479800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr17:59474600-59476400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:59474800-59476400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:59474800-59476600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr17:59474800-59476600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
14	chr17:59474800-59476800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr17:59474800-59477200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:59474800-59477200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr17:59474800-59477200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr17:59474800-59477200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr17:59474800-59477400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr17:59475000-59476400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:59475000-59476400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:59475000-59476400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:59475000-59476400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:59475000-59476400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
25	chr17:59475000-59476400	Transcr. at gene 5' and 3'	NHLF	lung
26	chr17:59475000-59479200	Active TSS	HSMM	muscle
27	chr17:59475000-59480400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr17:59475200-59476400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr17:59475200-59476600	Flanking Bivalent TSS/Enh	Placenta	Placenta
30	chr17:59475400-59476400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:59475400-59476400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr17:59475400-59476400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
33	chr17:59475400-59476400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
34	chr17:59475400-59476600	Flanking Active TSS	Right Atrium	heart
35	chr17:59475400-59476800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
36	chr17:59475400-59476800	Flanking Bivalent TSS/Enh	NH-A	brain
37	chr17:59475400-59478800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:59475400-59479600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
39	chr17:59475600-59476400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr17:59475600-59476400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr17:59475600-59476400	Flanking Active TSS	Right Ventricle	heart
42	chr17:59475600-59476600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
43	chr17:59475600-59476600	Bivalent Enhancer	Fetal Thymus	thymus
44	chr17:59475600-59477000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr17:59475600-59477000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr17:59475800-59476400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:59475800-59476400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
48	chr17:59475800-59476400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr17:59475800-59476400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
50	chr17:59475800-59476400	Flanking Bivalent TSS/Enh	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links