Variant report

Variant	nsv876783
Chromosome Location	chr3:51987224-52009612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1682)
CpG islands
(count:2867)
Chromatin interactive
region (count:56)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1682 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:52007659-52007794	HepG2	liver:	n/a	n/a
2	ATF2	chr3:52007731-52008226	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:52007725-52008234	GM12878	blood:	n/a	n/a
4	ATF2	chr3:52007912-52008361	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr3:51987562-51987733	K562	blood:	n/a	n/a
6	BACH1	chr3:52008980-52009729	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr3:52008210-52008416	K562	blood:	n/a	n/a
8	BACH1	chr3:52002182-52002551	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr3:52007663-52008364	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr3:52001721-52001788	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr3:51989641-51990152	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL3	chr3:52007660-52008298	A549	lung:	n/a	n/a
13	BCLAF1	chr3:52007549-52008336	GM12878	blood:	n/a	n/a
14	BCLAF1	chr3:52007699-52008347	GM12878	blood:	n/a	n/a
15	BHLHE40	chr3:52002050-52002079	K562	blood:	n/a	n/a
16	BHLHE40	chr3:52008687-52009642	GM12878	blood:	n/a	chr3:52009058-52009074
17	BHLHE40	chr3:52007827-52008308	GM12878	blood:	n/a	n/a
18	BHLHE40	chr3:52009118-52009280	K562	blood:	n/a	n/a
19	BHLHE40	chr3:52007745-52008375	HepG2	liver:	n/a	n/a
20	BHLHE40	chr3:52007719-52008626	K562	blood:	n/a	n/a
21	BRCA1	chr3:52009166-52009366	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr3:52008005-52008315	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr3:51990580-51990833	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr3:52008033-52008502	GM12878	blood:	n/a	n/a
25	BRCA1	chr3:52007806-52008214	Hela-S3	cervix:	n/a	n/a
26	CBX3	chr3:52007644-52008436	K562	blood:	n/a	n/a
27	CCNT2	chr3:52008924-52009387	K562	blood:	n/a	chr3:52009276-52009285
28	CCNT2	chr3:52001242-52002310	K562	blood:	n/a	chr3:52001718-52001727
29	CCNT2	chr3:52007739-52008256	K562	blood:	n/a	n/a
30	CEBPB	chr3:51987543-51987788	K562	blood:	n/a	chr3:51987659-51987670
31	CEBPB	chr3:51991378-51991616	K562	blood:	n/a	chr3:51991458-51991469
32	CEBPB	chr3:51987505-51987831	A549	lung:	n/a	chr3:51987659-51987670
33	CEBPB	chr3:51987414-51988105	Hela-S3	cervix:	n/a	chr3:51987659-51987670
34	CEBPB	chr3:52007468-52007750	A549	lung:	n/a	chr3:52007589-52007600
35	CEBPB	chr3:52007429-52007754	HepG2	liver:	n/a	chr3:52007589-52007600
36	CEBPB	chr3:51987587-51987757	K562	blood:	n/a	chr3:51987659-51987670
37	CEBPB	chr3:52007394-52008261	Hela-S3	cervix:	n/a	chr3:52007589-52007600
38	CEBPB	chr3:52007487-52007722	K562	blood:	n/a	chr3:52007589-52007600
39	CEBPB	chr3:51987432-51987872	IMR90	lung:	n/a	chr3:51987659-51987670
40	CEBPB	chr3:52007390-52007801	HepG2	liver:	n/a	chr3:52007589-52007600
41	CEBPB	chr3:51989325-51989488	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr3:52007488-52007725	HepG2	liver:	n/a	chr3:52007589-52007600
43	CEBPB	chr3:52001396-52001409	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr3:52002382-52002704	HepG2	liver:	n/a	chr3:52002533-52002544
45	CEBPB	chr3:51987494-51987839	K562	blood:	n/a	chr3:51987659-51987670
46	CEBPB	chr3:52007466-52007749	K562	blood:	n/a	chr3:52007589-52007600
47	CEBPB	chr3:52002494-52002714	Hela-S3	cervix:	n/a	chr3:52002533-52002544
48	CEBPB	chr3:52007459-52008149	HepG2	liver:	n/a	chr3:52007589-52007600
49	CEBPB	chr3:52002052-52002167	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr3:51989361-51989521	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2867 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:51994615-51994665	H1-hESC	embryonic stem cell:	embryo
2	chr3:52008802-52008852	HAEpiC	amniotic membrane:	n/a
3	chr3:51997385-51997435	GM12891	blood:	n/a
4	chr3:52008944-52008994	ECC-1	luminal epithelium:	n/a
5	chr3:52008944-52008994	BE2_C	brain:	n/a
6	chr3:51995445-51995495	RPTEC	kidney:	n/a
7	chr3:51998051-51998101	NH-A	brain:	n/a
8	chr3:52001995-52002045	NHDF-neo	bronchial:	n/a
9	chr3:51996797-51996847	Hela-S3	cervix:	n/a
10	chr3:52009002-52009052	RPTEC	kidney:	n/a
11	chr3:51999045-51999095	Jurkat	blood:	n/a
12	chr3:51997385-51997435	SK-N-MC	brain:	n/a
13	chr3:51994615-51994665	GM12878	blood:	n/a
14	chr3:52002169-52002219	HRE	kidney:	n/a
15	chr3:51994712-51994762	PrEC	prostate:	n/a
16	chr3:51991783-51991833	PANC-1	pancreas:	n/a
17	chr3:52008538-52008588	SK-N-SH	brain:	n/a
18	chr3:51995784-51995834	GM19239	blood:	n/a
19	chr3:51987688-51987738	IMR90	lung:	fetal
20	chr3:51995445-51995495	SK-N-SH	brain:	n/a
21	chr3:52008971-52009021	NB4	blood:	n/a
22	chr3:52007678-52007728	GM12878	blood:	n/a
23	chr3:51997492-51997542	HAEpiC	amniotic membrane:	n/a
24	chr3:51997385-51997435	HEK293	kidney:	embryo
25	chr3:51994712-51994762	GM12891	blood:	n/a
26	chr3:52009002-52009052	PFSK-1	brain:	n/a
27	chr3:51997385-51997435	NHDF-neo	bronchial:	n/a
28	chr3:51995445-51995495	AG09309	skin:	n/a
29	chr3:51997033-51997083	NB4	blood:	n/a
30	chr3:51997033-51997083	AG04450	lung:	fetal
31	chr3:51988425-51988475	HCF	heart:	n/a
32	chr3:51989692-51989742	ECC-1	luminal epithelium:	n/a
33	chr3:51996834-51996884	K562	blood:	n/a
34	chr3:52008971-52009021	GM12892	blood:	n/a
35	chr3:52008021-52008071	MCF-7	breast:	n/a
36	chr3:52008538-52008588	HAEpiC	amniotic membrane:	n/a
37	chr3:51989692-51989742	HCF	heart:	n/a
38	chr3:51994712-51994762	H1-hESC	embryonic stem cell:	embryo
39	chr3:52001426-52001476	PANC-1	pancreas:	n/a
40	chr3:52002169-52002219	Caco-2	colon:	n/a
41	chr3:51994712-51994762	GM06990	blood:	n/a
42	chr3:52001995-52002045	HCM	heart:	n/a
43	chr3:51998051-51998101	GM12892	blood:	n/a
44	chr3:51998051-51998101	NHBE	bronchial:	n/a
45	chr3:51994615-51994665	AG09309	skin:	n/a
46	chr3:51988425-51988475	HCT-116	colon:	n/a
47	chr3:52008538-52008588	CMK	blood:	n/a
48	chr3:51996797-51996847	HL-60	blood:	n/a
49	chr3:51988425-51988475	SK-N-MC	brain:	n/a
50	chr3:52007747-52007797	HAEpiC	amniotic membrane:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:51992447..51994551-chr3:51995327..51997429,2	K562	blood:
2	chr3:51974673..51977845-chr3:51999030..52003727,6	K562	blood:
3	chr3:51974725..51977771-chr3:52005335..52009465,8	K562	blood:
4	chr3:51980428..51982546-chr3:51998419..52000085,2	K562	blood:
5	chr3:51977352..51979030-chr3:51995876..51997693,2	MCF-7	breast:
6	chr3:51975782..51976919-chr3:52007634..52008466,4	MCF-7	breast:
7	chr10:121652003..121652515-chr3:52007578..52008290,2	HCT-116	colon:
8	chr3:51997651..51999473-chr3:52171714..52174151,2	K562	blood:
9	chr3:51987614..51990073-chr3:52025987..52029912,3	K562	blood:
10	chr3:51985305..51989166-chr3:51989564..51992012,3	K562	blood:
11	chr3:51974263..51976425-chr3:51999030..52003412,4	K562	blood:
12	chr3:51972287..51978873-chr3:51998179..52003667,9	MCF-7	breast:
13	chr3:51997248..52000056-chr3:52000079..52001783,2	MCF-7	breast:
14	chr3:49977294..49978117-chr3:52007652..52008341,2	HCT-116	colon:
15	chr3:52001556..52005448-chr3:52028528..52032420,5	MCF-7	breast:
16	chr3:51975763..51976713-chr3:52007592..52008460,5	K562	blood:
17	chr3:51988009..51992311-chr3:51992660..51997455,6	K562	blood:
18	chr3:52008016..52010191-chr3:52187253..52189980,2	MCF-7	breast:
19	chr3:51985563..51987517-chr3:51990241..51992502,2	MCF-7	breast:
20	chr3:51421943..51424034-chr3:52001693..52003789,2	MCF-7	breast:
21	chr3:52007743..52008336-chr9:114659043..114659889,2	Hela-S3	cervix:
22	chr3:52005327..52011372-chr3:52027090..52031188,9	MCF-7	breast:
23	chr3:51966649..51968588-chr3:51999482..52001370,2	K562	blood:
24	chr3:51989698..51992601-chr3:51995625..51997375,2	MCF-7	breast:
25	chr3:51988573..51991523-chr3:52028412..52030001,2	K562	blood:
26	chr3:51980605..51983550-chr3:51988202..51990542,2	MCF-7	breast:
27	chr3:51974179..51978718-chr3:52004198..52010829,11	K562	blood:
28	chr3:51982600..51984410-chr3:51985795..51988136,2	K562	blood:
29	chr3:52006271..52012102-chr3:52024917..52032079,14	MCF-7	breast:
30	chr1:145382615..145383121-chr3:52007673..52008276,2	Hela-S3	cervix:
31	chr3:51992685..51994681-chr3:51997289..51999303,2	MCF-7	breast:
32	chr3:51991130..51993001-chr3:51999490..52001486,2	MCF-7	breast:
33	chr3:51974812..51978768-chr3:52006594..52010604,6	MCF-7	breast:
34	chr3:51976311..51979172-chr3:51989239..51992217,2	K562	blood:
35	chr3:51985563..51987517-chr3:51990241..51992502,2	MCF-7	breast:
36	chr3:51975795..51976454-chr3:52007861..52008453,3	MCF-7	breast:
37	chr3:51976078..51979243-chr3:51993727..51997610,4	K562	blood:
38	chr3:51988009..51992311-chr3:51992660..51997455,6	K562	blood:
39	chr3:51978894..51981977-chr3:52001614..52003382,3	MCF-7	breast:
40	chr11:33182274..33183032-chr3:52007563..52008447,2	Hela-S3	cervix:
41	chr3:52004409..52006083-chr3:52016473..52018400,2	MCF-7	breast:
42	chr3:51996322..51998656-chr3:51999527..52001457,4	MCF-7	breast:
43	chr3:51992685..51994681-chr3:51997289..51999303,2	MCF-7	breast:
44	chr3:51970192..51973030-chr3:51997697..51999602,2	K562	blood:
45	chr3:51976676..51979243-chr3:51995471..51997610,2	K562	blood:
46	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
47	chr3:51975872..51976824-chr3:52007664..52008404,2	Hela-S3	cervix:
48	chr3:51987928..51991924-chr3:52001407..52003695,4	MCF-7	breast:
49	chr3:52007628..52011282-chr3:52186808..52190381,5	K562	blood:
50	chr3:51997248..52000056-chr3:52000079..52001783,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCBP4-2	chr3:51985865-51987918	NONHSAT089889

No data

Variant related genes	Relation type
ABHD14B	TF binding region
ABHD14A-ACY1	TF binding region
ENSG00000254782	TF binding region
GPR62	TF binding region
PCBP4	TF binding region
ENSG00000272762	TF binding region
ACY1	TF binding region
ABHD14A	TF binding region
ABHD14B	CpG island
ABHD14A-ACY1	CpG island
ENSG00000254782	CpG island
GPR62	CpG island
PCBP4	CpG island
ENSG00000272762	CpG island
ACY1	CpG island
ABHD14A	CpG island
ENSG00000180929	chromatin interactions
ENSG00000162244	chromatin interactions
ENSG00000114767	chromatin interactions
ENSG00000243989	chromatin interactions
ENSG00000176102	chromatin interactions
ENSG00000107651	chromatin interactions
ENSG00000197771	chromatin interactions
ENSG00000090097	chromatin interactions
ENSG00000004534	chromatin interactions
ENSG00000164087	chromatin interactions
ENSG00000145050	chromatin interactions
ENSG00000148154	chromatin interactions
ENSG00000041880	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000114779	chromatin interactions

Extended variants
information (count: 905 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11719513	chr3:51987224-51987225	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs532054869	chr3:51987232-51987233	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs551776238	chr3:51987233-51987234	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs545190122	chr3:51987236-51987237	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs140424191	chr3:51987287-51987288	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs572139323	chr3:51987315-51987316	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs144203369	chr3:51987368-51987369	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs560984170	chr3:51987386-51987387	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs535611269	chr3:51987406-51987407	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs550869501	chr3:51987408-51987409	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs562806439	chr3:51987433-51987434	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs554260082	chr3:51987442-51987443	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs182361684	chr3:51987466-51987467	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs551981431	chr3:51987473-51987474	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs72964003	chr3:51987515-51987516	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534346911	chr3:51987570-51987571	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs549208651	chr3:51987583-51987584	Enhancers Bivalent Enhancer Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs572423263	chr3:51987609-51987610	Enhancers Weak transcription Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs567655068	chr3:51987655-51987656	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs538201745	chr3:51987678-51987679	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs556514272	chr3:51987688-51987689	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs577978939	chr3:51987705-51987706	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs186979498	chr3:51987774-51987775	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs531121952	chr3:51987849-51987850	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs551209244	chr3:51988000-51988001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191232876	chr3:51988012-51988013	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs542709661	chr3:51988057-51988058	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs183484688	chr3:51988106-51988107	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs115295376	chr3:51988135-51988136	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs188466083	chr3:51988156-51988157	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs557686192	chr3:51988162-51988163	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs146575677	chr3:51988217-51988218	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs193219816	chr3:51988220-51988221	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs533481968	chr3:51988233-51988234	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs114215530	chr3:51988234-51988235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs560787713	chr3:51988262-51988263	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs527835028	chr3:51988276-51988277	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs576765755	chr3:51988319-51988320	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs141316093	chr3:51988323-51988324	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs114325655	chr3:51988337-51988338	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs76624158	chr3:51988367-51988368	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs550232431	chr3:51988393-51988394	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs144755316	chr3:51988418-51988419	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs536888172	chr3:51988419-51988420	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs538980513	chr3:51988425-51988426	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs553736349	chr3:51988426-51988427	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs368792964	chr3:51988434-51988435	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs529881466	chr3:51988455-51988456	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs565873807	chr3:51988524-51988525	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs536021823	chr3:51988569-51988570	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:2181 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51977200-51987600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:51977200-51989200	Weak transcription	Ovary	ovary
3	chr3:51977200-51992000	Weak transcription	Aorta	Aorta
4	chr3:51977400-51989200	Weak transcription	Esophagus	oesophagus
5	chr3:51977600-51987600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:51977600-51987600	Weak transcription	HSMM	muscle
7	chr3:51977600-51989000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:51977600-51989000	Weak transcription	Pancreas	Pancrea
9	chr3:51977600-51989400	Weak transcription	Left Ventricle	heart
10	chr3:51977800-51987800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:51977800-51989400	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:51980400-51989400	Weak transcription	Right Ventricle	heart
13	chr3:51980600-51989200	Weak transcription	Gastric	stomach
14	chr3:51980800-51988000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:51982400-51987400	Weak transcription	Fetal Intestine Small	intestine
16	chr3:51982400-51987800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:51983400-51988400	Weak transcription	Colonic Mucosa	Colon
18	chr3:51983400-51989000	Weak transcription	Brain Anterior Caudate	brain
19	chr3:51983400-51989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:51983400-51989000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:51983400-51989400	Weak transcription	Lung	lung
22	chr3:51983600-51987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:51983600-51987800	Weak transcription	NHLF	lung
24	chr3:51983600-51989000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:51983600-51989200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:51983600-51989200	Weak transcription	Adipose Nuclei	Adipose
27	chr3:51983600-51989200	Weak transcription	Spleen	Spleen
28	chr3:51983800-51990200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:51984000-51989200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:51984400-51989200	Weak transcription	Liver	Liver
31	chr3:51986200-51993400	Weak transcription	HepG2	liver
32	chr3:51987000-51987800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:51987000-51988200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:51987000-51988200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:51987000-51988400	Enhancers	Hela-S3	cervix
36	chr3:51987000-51989000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr3:51987200-51987400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:51987200-51987400	Enhancers	HSMMtube	muscle
39	chr3:51987200-51987600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:51987200-51987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:51987200-51987600	Enhancers	HMEC	breast
42	chr3:51987200-51987800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:51987200-51987800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:51987200-51987800	Enhancers	NHDF-Ad	bronchial
45	chr3:51987200-51988000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:51987200-51988000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:51987200-51988000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:51987200-51988000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:51987200-51988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:51987200-51988200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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