Variant report

Variant	nsv1002891
Chromosome Location	chr2:54227005-54682169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4955)
CpG islands
(count:2872)
Chromatin interactive
region (count:223)
LncRNA
region (count:47)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4955 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54330782-54331178	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54235562-54235878	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54330391-54330394	K562	blood:	n/a	n/a
5	ARID3A	chr2:54301055-54301148	K562	blood:	n/a	n/a
6	ARID3A	chr2:54557555-54557779	K562	blood:	n/a	n/a
7	ARID3A	chr2:54616581-54616597	K562	blood:	n/a	n/a
8	ARID3A	chr2:54433811-54434099	K562	blood:	n/a	n/a
9	ARID3A	chr2:54461132-54461865	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:54334105-54334747	HepG2	liver:	n/a	n/a
11	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
12	ARID3A	chr2:54434706-54435407	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:54275644-54275675	K562	blood:	n/a	n/a
15	ARID3A	chr2:54488738-54489020	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:54673849-54674029	HepG2	liver:	n/a	n/a
17	ARID3A	chr2:54454959-54455274	K562	blood:	n/a	n/a
18	ARID3A	chr2:54439728-54439894	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:54280074-54280274	K562	blood:	n/a	n/a
20	ARID3A	chr2:54681591-54682242	HepG2	liver:	n/a	n/a
21	ARID3A	chr2:54257321-54257392	K562	blood:	n/a	n/a
22	ARID3A	chr2:54342112-54343329	HepG2	liver:	n/a	n/a
23	ARID3A	chr2:54629451-54629642	HepG2	liver:	n/a	n/a
24	ARID3A	chr2:54433752-54434035	HepG2	liver:	n/a	n/a
25	ARID3A	chr2:54303768-54304953	K562	blood:	n/a	n/a
26	ARID3A	chr2:54342214-54342674	K562	blood:	n/a	n/a
27	ARID3A	chr2:54622074-54622134	HepG2	liver:	n/a	n/a
28	ARID3A	chr2:54557735-54558115	HepG2	liver:	n/a	n/a
29	ARID3A	chr2:54270839-54271530	HepG2	liver:	n/a	n/a
30	ATF1	chr2:54482380-54482686	K562	blood:	n/a	n/a
31	ATF1	chr2:54227747-54228089	K562	blood:	n/a	n/a
32	ATF1	chr2:54308755-54309212	K562	blood:	n/a	n/a
33	ATF1	chr2:54643485-54643969	K562	blood:	n/a	n/a
34	ATF1	chr2:54501879-54502144	K562	blood:	n/a	n/a
35	ATF1	chr2:54667131-54667298	K562	blood:	n/a	n/a
36	ATF1	chr2:54491458-54491517	K562	blood:	n/a	n/a
37	ATF1	chr2:54563343-54563371	K562	blood:	n/a	n/a
38	ATF1	chr2:54535443-54535602	K562	blood:	n/a	n/a
39	ATF1	chr2:54454950-54455267	K562	blood:	n/a	n/a
40	ATF1	chr2:54568869-54569169	K562	blood:	n/a	n/a
41	ATF1	chr2:54629535-54629734	K562	blood:	n/a	n/a
42	ATF1	chr2:54304371-54304869	K562	blood:	n/a	n/a
43	ATF1	chr2:54602938-54603180	K562	blood:	n/a	n/a
44	ATF1	chr2:54653008-54653032	K562	blood:	n/a	n/a
45	ATF1	chr2:54639071-54639268	K562	blood:	n/a	n/a
46	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
47	ATF2	chr2:54342259-54343435	GM12878	blood:	n/a	n/a
48	ATF2	chr2:54300974-54301393	GM12878	blood:	n/a	n/a
49	ATF2	chr2:54308540-54309302	GM12878	blood:	n/a	n/a
50	ATF2	chr2:54501786-54502174	GM12878	blood:	n/a	n/a

(count:2872 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54557836-54557886	SK-N-SH_RA	brain:	n/a
2	chr2:54558089-54558139	Jurkat	blood:	n/a
3	chr2:54342584-54342634	ovcar-3	ovarian:	n/a
4	chr2:54557891-54557941	HEEpiC	esophagus:	n/a
5	chr2:54342584-54342634	GM12878	blood:	n/a
6	chr2:54557836-54557886	SK-N-SH_RA	brain:	n/a
7	chr2:54558089-54558139	Jurkat	blood:	n/a
8	chr2:54342584-54342634	ovcar-3	ovarian:	n/a
9	chr2:54557891-54557941	HEEpiC	esophagus:	n/a
10	chr2:54342584-54342634	GM12878	blood:	n/a
11	chr2:54483433-54483483	SK-N-SH_RA	brain:	n/a
12	chr2:54342961-54343011	HCF	heart:	n/a
13	chr2:54323593-54323643	SAEC	small airway:	n/a
14	chr2:54555541-54555591	HCT-116	colon:	n/a
15	chr2:54350432-54350482	SK-N-MC	brain:	n/a
16	chr2:54315563-54315613	GM12891	blood:	n/a
17	chr2:54343179-54343229	HRCEpiC	kidney:	n/a
18	chr2:54598593-54598643	K562	blood:	n/a
19	chr2:54345792-54345842	NH-A	brain:	n/a
20	chr2:54557891-54557941	AG09309	skin:	n/a
21	chr2:54483193-54483243	SK-N-SH	brain:	n/a
22	chr2:54517309-54517359	NHBE	bronchial:	n/a
23	chr2:54558089-54558139	RPTEC	kidney:	n/a
24	chr2:54342651-54342701	GM19239	blood:	n/a
25	chr2:54485712-54485762	HRE	kidney:	n/a
26	chr2:54558352-54558402	CMK	blood:	n/a
27	chr2:54340934-54340984	SK-N-SH	brain:	n/a
28	chr2:54343179-54343229	HUVEC	blood vessel:	n/a
29	chr2:54292798-54292848	HEK293	kidney:	embryo
30	chr2:54483433-54483483	AG09319	gingival:	n/a
31	chr2:54557882-54557932	H1-hESC	embryonic stem cell:	embryo
32	chr2:54557891-54557941	U87	brain:	n/a
33	chr2:54482475-54482525	Hela-S3	cervix:	n/a
34	chr2:54342806-54342856	NHDF-neo	bronchial:	n/a
35	chr2:54483498-54483548	ovcar-3	ovarian:	n/a
36	chr2:54482475-54482525	AG09319	gingival:	n/a
37	chr2:54482841-54482891	ovcar-3	ovarian:	n/a
38	chr2:54350432-54350482	AG04449	skin:	fetal
39	chr2:54555541-54555591	Hela-S3	cervix:	n/a
40	chr2:54681906-54681956	HRCEpiC	kidney:	n/a
41	chr2:54483193-54483243	AG04449	skin:	fetal
42	chr2:54342584-54342634	HIPEpiC	eye:	n/a
43	chr2:54555541-54555591	ProgFib	skin:	n/a
44	chr2:54483379-54483429	HAEpiC	amniotic membrane:	n/a
45	chr2:54517309-54517359	HRPEpiC	eye:	n/a
46	chr2:54481922-54481972	GM12878	blood:	n/a
47	chr2:54517167-54517217	PrEC	prostate:	n/a
48	chr2:54483193-54483243	Caco-2	colon:	n/a
49	chr2:54269207-54269257	PANC-1	pancreas:	n/a
50	chr2:54483433-54483483	SAEC	small airway:	n/a

(count:223 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:
2	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
3	chr2:54341806..54344770-chr2:54784235..54787039,2	MCF-7	breast:
4	chr2:54629042..54631678-chr2:54646319..54649301,2	K562	blood:
5	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
6	chr2:54341307..54344135-chr2:54557168..54559182,2	K562	blood:
7	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
8	chr2:54501772..54502741-chr2:54515554..54516142,2	MCF-7	breast:
9	chr2:54184085..54186543-chr2:54292825..54294983,2	K562	blood:
10	chr2:54334195..54335002-chr2:54730347..54730951,3	MCF-7	breast:
11	chr1:190092651..190093439-chr2:54308392..54308957,2	MCF-7	breast:
12	chr2:54281996..54284399-chr2:54289462..54291009,2	MCF-7	breast:
13	chr2:54238943..54240796-chr2:54245575..54247733,2	K562	blood:
14	chr2:54314163..54315744-chr2:54319070..54321460,2	MCF-7	breast:
15	chr2:54578951..54582305-chr2:54585861..54589772,4	K562	blood:
16	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
17	chr2:54457083..54460035-chr2:54464183..54466106,2	K562	blood:
18	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
19	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
20	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:
21	chr2:54319207..54320818-chr2:54338574..54340927,2	K562	blood:
22	chr2:54610202..54613159-chr2:54615102..54617874,2	K562	blood:
23	chr2:54630441..54633301-chr2:54634857..54637663,2	MCF-7	breast:
24	chr2:54663282..54665058-chr2:54681463..54683178,2	MCF-7	breast:
25	chr2:54630441..54633301-chr2:54634857..54637663,2	MCF-7	breast:
26	chr2:54570097..54573126-chr2:54573916..54576367,3	K562	blood:
27	chr2:54281996..54284399-chr2:54289462..54291009,2	MCF-7	breast:
28	chr2:54631365..54634215-chr2:54635530..54638511,2	K562	blood:
29	chr2:54466633..54468348-chr2:54481012..54483338,2	K562	blood:
30	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
31	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
32	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
33	chr2:54320228..54322780-chr2:54323373..54326100,2	K562	blood:
34	chr2:54578951..54582305-chr2:54585861..54589772,4	K562	blood:
35	chr2:54279730..54280237-chr2:54311516..54312403,2	MCF-7	breast:
36	chr18:12947857..12948364-chr2:54342415..54343083,2	Hela-S3	cervix:
37	chr2:54310362..54312411-chr2:54340421..54343349,2	MCF-7	breast:
38	chr2:54641076..54644026-chr2:54655042..54656989,2	MCF-7	breast:
39	chr2:54209836..54212670-chr2:54227485..54229972,3	MCF-7	breast:
40	chr2:54668438..54670233-chr2:54675850..54678657,2	K562	blood:
41	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
42	chr2:54236599..54238430-chr2:54241377..54242897,2	K562	blood:
43	chr2:54310601..54313895-chr2:54315141..54317483,3	MCF-7	breast:
44	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
45	chr2:54587660..54591238-chr2:54594163..54597733,4	K562	blood:
46	chr2:54629237..54631678-chr2:54647068..54649301,2	K562	blood:
47	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
48	chr2:54668438..54670233-chr2:54675850..54678657,2	K562	blood:
49	chr2:54279392..54279928-chr2:54311498..54312280,2	MCF-7	breast:
50	chr2:54470373..54472757-chr2:54474538..54476431,2	K562	blood:

(count:47 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSME4-2	chr2:54284396-54284498	NONHSAT070719
2	lnc-SPTBN1-2	chr2:54662632-54662642	NONHSAT070736
3	lnc-C2orf73-1	chr2:54610581-54610925	XLOC_001473
4	lnc-ACYP2-1	chr2:54292597-54293184	ENSG00000239235.3
5	lnc-PSME4-1	chr2:54257723-54257819	NONHSAT070721
6	lnc-ACYP2-2	chr2:54311707-54312203	ENSG00000272156.1
7	lnc-SPTBN1-3	chr2:54660962-54661074	XLOC_001474
8	lnc-ACYP2-1	chr2:54284376-54284497	ENSG00000239235.3
9	lnc-SPTBN1-2	chr2:54673812-54673837	NONHSAT070736
10	lnc-C2orf73-1	chr2:54587340-54587408	NONHSAT070733
11	lnc-ACYP2-1	chr2:54284376-54284497	ENSG00000239235.3
12	lnc-PSME4-2	chr2:54307111-54307417	NONHSAT070726
13	lnc-ACYP2-4	chr2:54264770-54265826	NONHSAT070723
14	lnc-PSME4-2	chr2:54279631-54279665	NONHSAT070719
15	lnc-ACYP2-3	chr2:54278471-54278897	NONHSAT070725
16	lnc-PSME4-2	chr2:54279456-54279477	NONHSAT070719
17	lnc-PSME4-2	chr2:54279610-54279622	NONHSAT070719
18	lnc-ACYP2-1	chr2:54278095-54278187	ENSG00000239235.3
19	lnc-C2orf73-1	chr2:54610581-54610879	NONHSAT070733
20	lnc-ACYP2-6	chr2:54234735-54240630	NONHSAT070717
21	lnc-C2orf73-1	chr2:54609065-54609122	XLOC_001473
22	lnc-ACYP2-1	chr2:54278095-54278172	NONHSAT070714
23	lnc-PSME4-2	chr2:54289597-54289991	NONHSAT070719
24	lnc-PSME4-2	chr2:54279531-54279583	NONHSAT070719
25	lnc-C2orf73-1	chr2:54608983-54609122	NONHSAT070733
26	lnc-SPTBN1-3	chr2:54659980-54660084	XLOC_001474
27	lnc-PSME4-2	chr2:54248557-54249107	NONHSAT070719
28	lnc-C2orf73-1	chr2:54558124-54558138	NONHSAT070733
29	lnc-PSME4-1	chr2:54256689-54257003	NONHSAT070721
30	lnc-ACYP2-1	chr2:54307069-54307601	ENSG00000239235.3
31	lnc-PSME4-2	chr2:54307069-54307599	NONHSAT070719
32	lnc-PSME4-2	chr2:54249535-54249668	NONHSAT070719
33	lnc-PSME4-2	chr2:54311715-54312205	NONHSAT070719
34	lnc-ACYP2-4	chr2:54263335-54264887	NONHSAT070722
35	lnc-PSME4-2	chr2:54265061-54265273	NONHSAT070719
36	lnc-SPTBN1-2	chr2:54673813-54673837	XLOC_001475
37	lnc-ACYP2-2	chr2:54309691-54309925	ENSG00000272156.1
38	lnc-SPTBN1-2	chr2:54662730-54663056	XLOC_001475
39	lnc-SPTBN1-2	chr2:54662729-54663056	NONHSAT070736
40	lnc-C2orf73-1	chr2:54587981-54588079	NONHSAT070733
41	lnc-ACYP2-1	chr2:54278095-54278187	ENSG00000239235.3
42	lnc-PSME4-2	chr2:54278721-54279184	NONHSAT070719
43	lnc-ACYP2-4	chr2:54259644-54261288	NONHSAT070722
44	lnc-SPTBN1-2	chr2:54662633-54662642	XLOC_001475
45	lnc-ACYP2-5	chr2:54254065-54254992	NONHSAT070720
46	lnc-PSME4-2	chr2:54292597-54293185	NONHSAT070719
47	lnc-PSME4-2	chr2:54277197-54277685	NONHSAT070719

No data

Variant related genes	Relation type
ENSG00000241114	TF binding region
C2orf73	TF binding region
ENSG00000235937	TF binding region
RNU7-172P	TF binding region
ACYP2	TF binding region
TSPYL6	TF binding region
ENSG00000272156	TF binding region
SPTBN1	TF binding region
HMGB1P31	TF binding region
ENSG00000241114	CpG island
C2orf73	CpG island
ENSG00000235937	CpG island
RNU7-172P	CpG island
ACYP2	CpG island
TSPYL6	CpG island
ENSG00000272156	CpG island
SPTBN1	CpG island
HMGB1P31	CpG island
ENSG00000233266	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000272156	chromatin interactions
ENSG00000170634	chromatin interactions
ENSG00000177994	chromatin interactions
ENSG00000178980	chromatin interactions
ENSG00000115239	chromatin interactions
ENSG00000141552	chromatin interactions
ENSG00000068878	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000175920	chromatin interactions
ENSG00000112893	chromatin interactions
ENSG00000178021	chromatin interactions
ENSG00000196562	chromatin interactions
ENSG00000140374	chromatin interactions
ENSG00000143942	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000241114	chromatin interactions
ENSG00000115306	chromatin interactions

Extended variants
information (count: 18673 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18673 , 50 per page) page: 1 2 3 4 5 6 7 ... 374

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188669072	chr2:54227047-54227048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181102381	chr2:54227051-54227052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577275186	chr2:54227056-54227057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537658582	chr2:54227147-54227148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1477258	chr2:54227168-54227169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534820191	chr2:54227198-54227199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs578163921	chr2:54227211-54227212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574717302	chr2:54227239-54227240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1363065	chr2:54227272-54227273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs56302494	chr2:54227274-54227275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs574087365	chr2:54227348-54227349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72904915	chr2:54227350-54227351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563054713	chr2:54227355-54227356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544237758	chr2:54227414-54227415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545783376	chr2:54227430-54227431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576660157	chr2:54227459-54227460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553103951	chr2:54227477-54227478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545302992	chr2:54227500-54227501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572845711	chr2:54227574-54227575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565136544	chr2:54227575-54227576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139354662	chr2:54227617-54227618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542447594	chr2:54227634-54227635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562124506	chr2:54227637-54227638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532905934	chr2:54227643-54227644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115030996	chr2:54227679-54227680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141955521	chr2:54227680-54227681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10204967	chr2:54227681-54227682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368754791	chr2:54227703-54227704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559766453	chr2:54227712-54227713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528901022	chr2:54227730-54227731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183686774	chr2:54227740-54227741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567002963	chr2:54227763-54227764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150735497	chr2:54227784-54227785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560001716	chr2:54227785-54227786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139097522	chr2:54227803-54227804	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs76341255	chr2:54227815-54227816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs548926362	chr2:54227880-54227881	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142299942	chr2:54227901-54227902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188009139	chr2:54227902-54227903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs182157314	chr2:54227908-54227909	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539483663	chr2:54227913-54227914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs114055167	chr2:54227987-54227988	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs145953681	chr2:54227991-54227992	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541538167	chr2:54228052-54228053	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187197017	chr2:54228120-54228121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575764205	chr2:54228125-54228126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547520800	chr2:54228144-54228145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544358572	chr2:54228210-54228211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564443853	chr2:54228241-54228242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191952366	chr2:54228295-54228296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5647 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
2	chr2:54208400-54248200	Weak transcription	Lung	lung
3	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
5	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:54216400-54242000	Weak transcription	Fetal Intestine Small	intestine
7	chr2:54217000-54236600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:54217000-54236800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54217000-54248200	Weak transcription	Gastric	stomach
10	chr2:54217200-54233800	Weak transcription	HepG2	liver
11	chr2:54217200-54239600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:54222400-54228400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:54224400-54239600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:54225200-54228400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:54225600-54228400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:54226000-54231000	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:54226000-54240000	Weak transcription	Primary B cells from cord blood	blood
18	chr2:54226200-54239600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:54226600-54243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:54226800-54227600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:54226800-54228000	Weak transcription	Right Atrium	heart
22	chr2:54226800-54228200	Weak transcription	Pancreas	Pancrea
23	chr2:54226800-54236800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:54226800-54239000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:54226800-54239200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr2:54227000-54227400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:54227400-54227800	Enhancers	K562	blood
28	chr2:54227400-54228200	Enhancers	Primary T cells from cord blood	blood
29	chr2:54227600-54228000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:54227600-54228400	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:54227800-54228200	Flanking Active TSS	K562	blood
32	chr2:54228000-54229000	Enhancers	Right Atrium	heart
33	chr2:54228200-54228400	Enhancers	Pancreas	Pancrea
34	chr2:54228200-54228400	Enhancers	K562	blood
35	chr2:54228200-54236600	Weak transcription	Primary T cells from cord blood	blood
36	chr2:54228400-54239600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:54228800-54229000	Enhancers	Aorta	Aorta
38	chr2:54228800-54243400	Weak transcription	Fetal Lung	lung
39	chr2:54229000-54243000	Weak transcription	Right Atrium	heart
40	chr2:54229200-54245800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:54231000-54231200	ZNF genes & repeats	Brain Hippocampus Middle	brain
42	chr2:54231000-54231200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:54231200-54232000	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:54231200-54235400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:54232000-54232600	Enhancers	Brain Hippocampus Middle	brain
46	chr2:54232200-54232600	Enhancers	Brain Substantia Nigra	brain
47	chr2:54232600-54236400	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:54232600-54236600	Weak transcription	Brain Substantia Nigra	brain
49	chr2:54233800-54234000	Enhancers	HepG2	liver
50	chr2:54234000-54234400	Weak transcription	HepG2	liver

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