Variant report

Variant	nsv520636
Chromosome Location	chr17:38254689-38264197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1184)
CpG islands
(count:1282)
Chromatin interactive
region (count:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1184 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:38256858-38257049	K562	blood:	n/a	n/a
2	ARID3A	chr17:38257274-38257587	K562	blood:	n/a	n/a
3	ARID3A	chr17:38255066-38255567	K562	blood:	n/a	n/a
4	ARID3A	chr17:38256515-38257861	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:38255345-38255923	HepG2	liver:	n/a	n/a
6	ARID3A	chr17:38254117-38255074	HepG2	liver:	n/a	n/a
7	ATF1	chr17:38255180-38255743	K562	blood:	n/a	n/a
8	ATF1	chr17:38256855-38257717	K562	blood:	n/a	n/a
9	ATF2	chr17:38257311-38257790	GM12878	blood:	n/a	n/a
10	ATF2	chr17:38263920-38264631	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr17:38255055-38255654	GM12878	blood:	n/a	n/a
12	ATF3	chr17:38256753-38257117	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr17:38255273-38255804	K562	blood:	n/a	chr17:38255343-38255352
14	ATF3	chr17:38255194-38255833	K562	blood:	n/a	chr17:38255343-38255352
15	ATF3	chr17:38257360-38257710	K562	blood:	n/a	n/a
16	ATF3	chr17:38256654-38257780	A549	lung:	n/a	n/a
17	ATF3	chr17:38255087-38255679	K562	blood:	n/a	chr17:38255343-38255352
18	ATF3	chr17:38255166-38255876	A549	lung:	n/a	chr17:38255343-38255352
19	ATF3	chr17:38256435-38257153	A549	lung:	n/a	n/a
20	ATF3	chr17:38256658-38257671	K562	blood:	n/a	n/a
21	BACH1	chr17:38257017-38257192	K562	blood:	n/a	n/a
22	BACH1	chr17:38256808-38257382	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr17:38254630-38254921	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr17:38256183-38256231	K562	blood:	n/a	n/a
25	BACH1	chr17:38255849-38255861	K562	blood:	n/a	n/a
26	BACH1	chr17:38255304-38255526	H1-hESC	embryonic stem cell:	n/a	chr17:38255309-38255323
27	BATF	chr17:38257366-38257781	GM12878	blood:	n/a	chr17:38257574-38257585 chr17:38257575-38257585 chr17:38257571-38257581
28	BCL3	chr17:38254583-38258019	A549	lung:	n/a	chr17:38257671-38257684 chr17:38256678-38256691 chr17:38257574-38257583 chr17:38255605-38255614
29	BCL3	chr17:38255104-38255759	K562	blood:	n/a	chr17:38255605-38255614
30	BCL3	chr17:38254237-38255869	A549	lung:	n/a	chr17:38255605-38255614
31	BCL3	chr17:38256359-38257966	A549	lung:	n/a	chr17:38257671-38257684 chr17:38256678-38256691 chr17:38257574-38257583
32	BHLHE40	chr17:38254421-38255884	K562	blood:	n/a	n/a
33	BHLHE40	chr17:38256208-38256237	K562	blood:	n/a	n/a
34	BHLHE40	chr17:38256690-38257692	GM12878	blood:	n/a	chr17:38257297-38257310
35	BHLHE40	chr17:38256450-38257743	K562	blood:	n/a	chr17:38257297-38257310
36	BHLHE40	chr17:38256383-38257876	HepG2	liver:	n/a	chr17:38257297-38257310
37	BHLHE40	chr17:38255011-38255950	GM12878	blood:	n/a	n/a
38	BHLHE40	chr17:38264149-38264877	K562	blood:	n/a	chr17:38264593-38264609
39	BHLHE40	chr17:38254516-38254725	GM12878	blood:	n/a	n/a
40	BHLHE40	chr17:38256781-38257492	HepG2	liver:	n/a	chr17:38257297-38257310
41	BHLHE40	chr17:38254182-38256060	HepG2	liver:	n/a	n/a
42	BHLHE40	chr17:38256754-38257547	A549	lung:	n/a	chr17:38257297-38257310
43	BHLHE40	chr17:38256715-38257601	HepG2	liver:	n/a	chr17:38257297-38257310
44	BHLHE40	chr17:38263991-38264832	HepG2	liver:	n/a	chr17:38264593-38264609
45	BHLHE40	chr17:38260865-38261045	HepG2	liver:	n/a	n/a
46	BHLHE40	chr17:38255146-38255798	HepG2	liver:	n/a	n/a
47	BHLHE40	chr17:38255192-38255574	HepG2	liver:	n/a	n/a
48	BHLHE40	chr17:38255226-38255925	A549	lung:	n/a	n/a
49	BRCA1	chr17:38255075-38255924	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr17:38256284-38257575	Hela-S3	cervix:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:38255663-38255713	AG09319	gingival:	n/a
2	chr17:38255663-38255713	AG09319	gingival:	n/a
3	chr17:38257074-38257124	PrEC	prostate:	n/a
4	chr17:38260416-38260466	BE2_C	brain:	n/a
5	chr17:38257110-38257160	HAEpiC	amniotic membrane:	n/a
6	chr17:38257323-38257373	GM12892	blood:	n/a
7	chr17:38254714-38254764	Hela-S3	cervix:	n/a
8	chr17:38255694-38255744	Caco-2	colon:	n/a
9	chr17:38257936-38257986	GM19239	blood:	n/a
10	chr17:38256967-38257017	SK-N-SH_RA	brain:	n/a
11	chr17:38257020-38257070	HUVEC	blood vessel:	n/a
12	chr17:38256932-38256982	HIPEpiC	eye:	n/a
13	chr17:38256967-38257017	GM12878	blood:	n/a
14	chr17:38255343-38255393	HepG2	liver:	n/a
15	chr17:38257323-38257373	NT2-D1	testis:	n/a
16	chr17:38255663-38255713	NHBE	bronchial:	n/a
17	chr17:38256932-38256982	K562	blood:	n/a
18	chr17:38257028-38257078	GM12891	blood:	n/a
19	chr17:38257028-38257078	HepG2	liver:	n/a
20	chr17:38263416-38263466	H1-hESC	embryonic stem cell:	embryo
21	chr17:38257022-38257072	ovcar-3	ovarian:	n/a
22	chr17:38257936-38257986	IMR90	lung:	fetal
23	chr17:38255871-38255921	NHBE	bronchial:	n/a
24	chr17:38255694-38255744	Jurkat	blood:	n/a
25	chr17:38256932-38256982	NHDF-neo	bronchial:	n/a
26	chr17:38255871-38255921	PrEC	prostate:	n/a
27	chr17:38255343-38255393	ovcar-3	ovarian:	n/a
28	chr17:38257074-38257124	H1-hESC	embryonic stem cell:	embryo
29	chr17:38257081-38257131	AG09319	gingival:	n/a
30	chr17:38257110-38257160	A549	lung:	n/a
31	chr17:38257110-38257160	K562	blood:	n/a
32	chr17:38256932-38256982	HRCEpiC	kidney:	n/a
33	chr17:38257936-38257986	Caco-2	colon:	n/a
34	chr17:38257290-38257340	AoSMC	blood vessel:	n/a
35	chr17:38257936-38257986	AG09319	gingival:	n/a
36	chr17:38255871-38255921	SK-N-MC	brain:	n/a
37	chr17:38263416-38263466	HMEC	breast:	n/a
38	chr17:38255343-38255393	U87	brain:	n/a
39	chr17:38257022-38257072	Hepatocyte	liver:	n/a
40	chr17:38257323-38257373	RPTEC	kidney:	n/a
41	chr17:38257028-38257078	IMR90	lung:	fetal
42	chr17:38257074-38257124	AG09309	skin:	n/a
43	chr17:38255663-38255713	HPAEpiC	pulmonary alveolar:	n/a
44	chr17:38255694-38255744	HCF	heart:	n/a
45	chr17:38257022-38257072	HepG2	liver:	n/a
46	chr17:38254714-38254764	NHDF-neo	bronchial:	n/a
47	chr17:38254714-38254764	SK-N-SH_RA	brain:	n/a
48	chr17:38256671-38256721	SK-N-MC	brain:	n/a
49	chr17:38255343-38255393	ECC-1	luminal epithelium:	n/a
50	chr17:38257936-38257986	U87	brain:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38255479..38257597-chr17:38472863..38476032,4	MCF-7	breast:
2	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
3	chr17:38255428..38255966-chr6:43968719..43969479,2	Hela-S3	cervix:
4	chr17:38263117..38266703-chr17:38295355..38298359,3	K562	blood:
5	chr17:38209724..38212564-chr17:38253281..38256740,3	K562	blood:
6	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
7	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
8	chr17:38136308..38139120-chr17:38254735..38257246,2	MCF-7	breast:
9	chr17:38225724..38230590-chr17:38252636..38256998,6	K562	blood:
10	chr17:38224768..38231268-chr17:38252636..38258126,7	K562	blood:
11	chr17:38255988..38258755-chr17:38294920..38298049,5	MCF-7	breast:
12	chr17:38256789..38257605-chr19:17325948..17326619,2	Hela-S3	cervix:
13	chr17:38255995..38257777-chr17:38317199..38319011,2	K562	blood:
14	chr17:38169185..38171597-chr17:38253858..38256821,3	K562	blood:
15	chr17:38256169..38256674-chr8:126441503..126442227,2	Hela-S3	cervix:
16	chr17:38257287..38258183-chr2:20646387..20646981,2	Hela-S3	cervix:
17	chr17:38253967..38258330-chr17:38333170..38336526,4	MCF-7	breast:
18	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
19	chr17:38256255..38256921-chr3:196668897..196669849,2	HCT-116	colon:
20	chr17:38255066..38255786-chr17:38267712..38268592,2	K562	blood:
21	chr17:38188851..38191376-chr17:38262046..38264469,2	K562	blood:
22	chr17:38254925..38257007-chr17:38334127..38336173,2	MCF-7	breast:
23	chr17:38218447..38220778-chr17:38254476..38256846,3	K562	blood:
24	chr17:7486452..7487112-chr17:38256919..38257708,2	Hela-S3	cervix:
25	chr17:38242954..38244557-chr17:38253562..38255451,2	MCF-7	breast:
26	chr1:149858343..149859055-chr17:38256691..38257650,2	Hela-S3	cervix:
27	chr17:37822718..37824685-chr17:38254119..38256837,4	K562	blood:
28	chr17:38137876..38139862-chr17:38253958..38255577,2	K562	blood:
29	chr17:38171795..38174739-chr17:38253717..38256695,2	K562	blood:
30	chr1:149223772..149224322-chr17:38257195..38257750,2	Hela-S3	cervix:
31	chr17:38241415..38245258-chr17:38262802..38266509,3	K562	blood:
32	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
33	chr17:38216722..38220271-chr17:38254476..38257952,5	K562	blood:
34	chr17:38179137..38180988-chr17:38255359..38257668,2	MCF-7	breast:
35	chr17:38136802..38138623-chr17:38254176..38256364,2	K562	blood:
36	chr17:38255224..38257824-chr17:38294998..38297075,3	MCF-7	breast:
37	chr17:38182380..38184937-chr17:38252764..38255458,2	MCF-7	breast:
38	chr17:38259645..38262257-chr17:38309453..38311215,2	MCF-7	breast:
39	chr1:43854894..43855677-chr17:38255405..38256315,2	Hela-S3	cervix:
40	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
41	chr17:38255561..38257319-chr17:38599585..38601482,2	K562	blood:
42	chr17:37822718..37824669-chr17:38254202..38256837,3	K562	blood:
43	chr17:38257297..38260164-chr17:38470426..38472629,2	MCF-7	breast:

No data

Variant related genes	Relation type
NR1D1	TF binding region
NR1D1	CpG island
ENSG00000131759	chromatin interactions
ENSG00000108344	chromatin interactions
ENSG00000129255	chromatin interactions
ENSG00000188895	chromatin interactions
ENSG00000270170	chromatin interactions
ENSG00000143878	chromatin interactions
ENSG00000265799	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000108349	chromatin interactions
ENSG00000233223	chromatin interactions
ENSG00000141753	chromatin interactions
ENSG00000141744	chromatin interactions
ENSG00000108352	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000008838	chromatin interactions
ENSG00000198198	chromatin interactions
ENSG00000238793	chromatin interactions
ENSG00000159479	chromatin interactions
ENSG00000114503	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000126351	chromatin interactions

Extended variants
information (count: 374 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2269457	chr17:38254689-38254690	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs573568555	chr17:38254694-38254695	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs116379158	chr17:38254706-38254707	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs532006088	chr17:38254731-38254732	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs115703770	chr17:38254779-38254780	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs575172006	chr17:38254824-38254825	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs542338676	chr17:38254870-38254871	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs573781746	chr17:38254885-38254886	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs545612960	chr17:38254901-38254902	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs117038965	chr17:38254902-38254903	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs559041977	chr17:38254920-38254921	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs546740102	chr17:38254949-38254950	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs149771287	chr17:38254967-38254968	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs544294527	chr17:38254976-38254977	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs550931979	chr17:38255000-38255001	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs569474469	chr17:38255012-38255013	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs35102205	chr17:38255036-38255037	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9894283	chr17:38255049-38255050	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547592299	chr17:38255089-38255090	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs144653198	chr17:38255192-38255193	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs534388287	chr17:38255220-38255221	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs71152641	chr17:38255262-38255263	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs200897867	chr17:38255268-38255269	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs533501261	chr17:38255285-38255286	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs552831675	chr17:38255300-38255301	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs574456450	chr17:38255304-38255305	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs535131734	chr17:38255321-38255322	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs550439466	chr17:38255376-38255377	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs371163069	chr17:38255377-38255378	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs535864559	chr17:38255490-38255491	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs575184195	chr17:38255505-38255506	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs113448112	chr17:38255510-38255511	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs375052023	chr17:38255527-38255528	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs557630612	chr17:38255537-38255538	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs572744458	chr17:38255552-38255553	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs12941465	chr17:38255565-38255566	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12941497	chr17:38255594-38255595	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375447723	chr17:38255698-38255699	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs139763848	chr17:38255715-38255716	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs544295797	chr17:38255729-38255730	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs191323455	chr17:38255745-38255746	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs533670313	chr17:38255752-38255753	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs552148473	chr17:38255836-38255837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs181749890	chr17:38255917-38255918	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs73306819	chr17:38255949-38255950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs549530099	chr17:38256057-38256058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs568083217	chr17:38256075-38256076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs535496717	chr17:38256089-38256090	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs556689958	chr17:38256152-38256153	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs568561670	chr17:38256158-38256159	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	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
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	24379144	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Sezary syndrome	18413736	CNVD
Urothelial carcinoma	21177765	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Disease	22962312	CNVD
Mental retardation	20152051	CNVD
Mental retardation	19951919	CNVD
Mental retardation	22817714	CNVD
Mental retardation	21956041	CNVD
Brain cancer	19584924	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	19165922	CNVD
Prader-willi syndrome	20588305	CNVD
17q21.31 microdeletion syndrome	16940994	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
17q21.31 microdeletion syndrome	22283845	CNVD
Intellectual disability	22194194	CNVD
17q21.31 microdeletion syndrome	20606400	CNVD
17q21.31 microdeletion syndrome	18628315	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	20409316	CNVD
HIV/AIDS	18360285	CNVD
HIV/AIDS	17330138	CNVD
Systemic lupus erythematosus	19287148	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
HIV/AIDS	17008540	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38243800-38254800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:38245400-38254800	Genic enhancers	Fetal Muscle Leg	muscle
3	chr17:38249000-38255200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
4	chr17:38251200-38255600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:38251600-38254800	Genic enhancers	Fetal Stomach	stomach
6	chr17:38251800-38255200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
7	chr17:38251800-38255200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
8	chr17:38252000-38254800	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
9	chr17:38252200-38254800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr17:38252200-38255200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr17:38252400-38255000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
12	chr17:38252600-38254800	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:38252600-38255200	Flanking Active TSS	GM12878-XiMat	blood
14	chr17:38252800-38255000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
15	chr17:38252800-38255200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr17:38253000-38255000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
17	chr17:38253200-38254800	Enhancers	Psoas Muscle	Psoas
18	chr17:38253400-38255000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:38253400-38255600	Enhancers	Primary B cells from cord blood	blood
20	chr17:38253600-38254800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:38253600-38254800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:38253600-38255000	Enhancers	Fetal Intestine Large	intestine
23	chr17:38253600-38255000	Enhancers	Placenta	Placenta
24	chr17:38253600-38255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:38253600-38255200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr17:38253600-38255200	Enhancers	Small Intestine	intestine
27	chr17:38253600-38255600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:38253800-38254800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:38253800-38254800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:38253800-38254800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr17:38253800-38255000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr17:38253800-38255200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:38253800-38255200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr17:38253800-38255200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:38253800-38255200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:38253800-38255200	Enhancers	Aorta	Aorta
37	chr17:38253800-38255200	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr17:38253800-38255200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr17:38253800-38255200	Flanking Active TSS	Hela-S3	cervix
40	chr17:38253800-38255200	Transcr. at gene 5' and 3'	NHEK	skin
41	chr17:38254000-38254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:38254000-38254800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:38254000-38254800	Enhancers	Fetal Brain Female	brain
44	chr17:38254000-38254800	Enhancers	Fetal Intestine Small	intestine
45	chr17:38254000-38254800	Flanking Active TSS	Right Ventricle	heart
46	chr17:38254000-38255000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:38254000-38255000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr17:38254000-38255200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr17:38254000-38255200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:38254000-38255200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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