Variant report

Variant	esv3442278
Chromosome Location	chr3:53527437-53530285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:53528166-53528316	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr3:53528336-53528341	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:53528276-53528314	H1-hESC	embryonic stem cell:	n/a	n/a
4	CREB1	chr3:53528231-53528544	A549	lung:	n/a	n/a
5	CTBP2	chr3:53529189-53530405	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr3:53529821-53529830	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:53529775-53530011	GM12878	blood:	n/a	n/a
8	CTCF	chr3:53528064-53528153	A549	lung:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
9	CTCF	chr3:53527930-53528200	MCF-7	breast:	n/a	chr3:53528088-53528098 chr3:53528084-53528100 chr3:53527999-53528012
10	CTCF	chr3:53529700-53529850	SAEC	small airway:	n/a	n/a
11	CTCF	chr3:53528160-53528310	GM06990	blood:	n/a	chr3:53528194-53528204
12	CTCF	chr3:53529880-53530030	SAEC	small airway:	n/a	n/a
13	CTCF	chr3:53527961-53527994	LNCaP	prostate:	n/a	n/a
14	CTCF	chr3:53529824-53529915	NHEK	skin:	n/a	n/a
15	CTCF	chr3:53528240-53528390	SK-N-SH_RA	brain:	n/a	chr3:53528345-53528358
16	CTCF	chr3:53528020-53528170	HRPEpiC	eye:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
17	CTCF	chr3:53528032-53528035	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:53528040-53528190	HRE	kidney:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
19	CTCF	chr3:53527952-53527960	LNCaP	prostate:	n/a	n/a
20	CTCF	chr3:53527900-53528050	HRPEpiC	eye:	n/a	chr3:53527999-53528012
21	CTCF	chr3:53529880-53530030	NHEK	skin:	n/a	n/a
22	CTCF	chr3:53527934-53528162	H1-hESC	embryonic stem cell:	n/a	chr3:53528088-53528098 chr3:53528084-53528100 chr3:53527999-53528012
23	CTCF	chr3:53529846-53529889	MCF-7	breast:	n/a	n/a
24	CTCF	chr3:53528000-53528150	HBMEC	blood vessel:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
25	CTCF	chr3:53528045-53528158	MCF-7	breast:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
26	CTCF	chr3:53527920-53528222	MCF-7	breast:	n/a	chr3:53528088-53528098 chr3:53528084-53528100 chr3:53528194-53528204 chr3:53527999-53528012
27	CTCF	chr3:53529640-53529790	HRE	kidney:	n/a	chr3:53529655-53529665
28	CTCF	chr3:53528082-53528185	LNCaP	prostate:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
29	CTCF	chr3:53527911-53528203	MCF-7	breast:	n/a	chr3:53528088-53528098 chr3:53528084-53528100 chr3:53527999-53528012
30	CTCF	chr3:53528020-53528170	WERI-Rb-1	eye:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
31	CTCF	chr3:53527980-53528130	SK-N-SH_RA	brain:	n/a	chr3:53528088-53528098 chr3:53528084-53528100 chr3:53527999-53528012
32	CTCF	chr3:53528020-53528170	Caco-2	colon:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
33	CTCF	chr3:53528020-53528170	SK-N-SH_RA	brain:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
34	CTCF	chr3:53528020-53528170	HUVEC	blood vessel:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
35	CTCF	chr3:53527920-53528070	MCF-7	breast:	n/a	chr3:53527999-53528012
36	CTCF	chr3:53528000-53528150	A549	lung:	n/a	chr3:53528088-53528098 chr3:53528084-53528100
37	E2F4	chr3:53528132-53528179	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F6	chr3:53529571-53530124	H1-hESC	embryonic stem cell:	n/a	chr3:53529649-53529661 chr3:53529652-53529661
39	E2F6	chr3:53527760-53528864	H1-hESC	embryonic stem cell:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53527887-53527896 chr3:53528093-53528103
40	E2F6	chr3:53527632-53528771	H1-hESC	embryonic stem cell:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53527887-53527896 chr3:53528093-53528103
41	E2F6	chr3:53529459-53530245	H1-hESC	embryonic stem cell:	n/a	chr3:53529649-53529661 chr3:53529652-53529661
42	GABPA	chr3:53527938-53528453	H1-hESC	embryonic stem cell:	n/a	chr3:53528198-53528207
43	GTF2F1	chr3:53528134-53528169	H1-hESC	embryonic stem cell:	n/a	n/a
44	HA-E2F1	chr3:53528050-53528548	MCF-7	breast:	n/a	chr3:53528233-53528242 chr3:53528338-53528348 chr3:53528198-53528207 chr3:53528250-53528259 chr3:53528093-53528103
45	JUN	chr3:53528115-53528162	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr3:53528019-53528197	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr3:53528182-53528866	A549	lung:	n/a	n/a
48	MAX	chr3:53527965-53528914	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr3:53527670-53528552	H1-hESC	embryonic stem cell:	n/a	chr3:53527885-53527895 chr3:53527882-53527891
50	MAX	chr3:53529793-53529975	GM12878	blood:	n/a	chr3:53529912-53529921 chr3:53529913-53529920

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:53528846-53528896	RPTEC	kidney:	n/a
2	chr3:53528849-53528899	NH-A	brain:	n/a
3	chr3:53528846-53528896	RPTEC	kidney:	n/a
4	chr3:53528849-53528899	NH-A	brain:	n/a
5	chr3:53529144-53529194	HIPEpiC	eye:	n/a
6	chr3:53527884-53527934	Jurkat	blood:	n/a
7	chr3:53529387-53529437	LNCaP	prostate:	n/a
8	chr3:53527884-53527934	NHDF-neo	bronchial:	n/a
9	chr3:53529387-53529437	SK-N-MC	brain:	n/a
10	chr3:53528846-53528896	GM12878	blood:	n/a
11	chr3:53529144-53529194	AG09319	gingival:	n/a
12	chr3:53529655-53529705	A549	lung:	n/a
13	chr3:53528162-53528212	GM12878	blood:	n/a
14	chr3:53530016-53530066	PrEC	prostate:	n/a
15	chr3:53528849-53528899	MCF-7	breast:	n/a
16	chr3:53528846-53528896	SKMC	muscle:	n/a
17	chr3:53529481-53529531	AG04450	lung:	fetal
18	chr3:53528849-53528899	MCF10A-Er-Src	breast:	n/a
19	chr3:53528162-53528212	MCF-7	breast:	n/a
20	chr3:53530016-53530066	AoSMC	blood vessel:	n/a
21	chr3:53529387-53529437	HRCEpiC	kidney:	n/a
22	chr3:53529481-53529531	HNPCEpiC	eye:	n/a
23	chr3:53529259-53529309	NHBE	bronchial:	n/a
24	chr3:53527994-53528044	MCF10A-Er-Src	breast:	n/a
25	chr3:53529655-53529705	PrEC	prostate:	n/a
26	chr3:53528162-53528212	BE2_C	brain:	n/a
27	chr3:53529259-53529309	H1-hESC	embryonic stem cell:	embryo
28	chr3:53529655-53529705	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:53529481-53529531	ProgFib	skin:	n/a
30	chr3:53529387-53529437	AG04450	lung:	fetal
31	chr3:53529481-53529531	NB4	blood:	n/a
32	chr3:53528846-53528896	Hela-S3	cervix:	n/a
33	chr3:53529387-53529437	Hepatocyte	liver:	n/a
34	chr3:53528857-53528907	U87	brain:	n/a
35	chr3:53530075-53530125	HCM	heart:	n/a
36	chr3:53528846-53528896	AG10803	skin:	n/a
37	chr3:53528857-53528907	HIPEpiC	eye:	n/a
38	chr3:53529481-53529531	GM06990	blood:	n/a
39	chr3:53530016-53530066	HMEC	breast:	n/a
40	chr3:53529387-53529437	NH-A	brain:	n/a
41	chr3:53528849-53528899	BJ	skin:	n/a
42	chr3:53528849-53528899	AG09309	skin:	n/a
43	chr3:53528846-53528896	Jurkat	blood:	n/a
44	chr3:53528846-53528896	HMEC	breast:	n/a
45	chr3:53529259-53529309	NHDF-neo	bronchial:	n/a
46	chr3:53528849-53528899	PrEC	prostate:	n/a
47	chr3:53529655-53529705	LNCaP	prostate:	n/a
48	chr3:53527994-53528044	HCM	heart:	n/a
49	chr3:53527884-53527934	AG09319	gingival:	n/a
50	chr3:53529387-53529437	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53525897..53528498-chr3:53700129..53702578,2	MCF-7	breast:
2	chr3:53526182..53528875-chr3:53879796..53881358,2	MCF-7	breast:

Variant related genes	Relation type
CACNA1D	TF binding region
CACNA1D	CpG island
ENSG00000056736	chromatin interactions
ENSG00000016391	chromatin interactions
ENSG00000157388	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3755816	chr3:53527439-53527440	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528750529	chr3:53527533-53527534	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs542143066	chr3:53527569-53527570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs368506283	chr3:53527640-53527641	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs561929713	chr3:53527684-53527685	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs371283670	chr3:53527702-53527703	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs369217396	chr3:53527752-53527753	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs549462765	chr3:53527767-53527768	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs560785848	chr3:53527776-53527777	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs368149306	chr3:53527893-53527894	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs527969700	chr3:53527959-53527960	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs569684089	chr3:53527993-53527994	Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs150101471	chr3:53528057-53528058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs532114943	chr3:53528080-53528081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs552869004	chr3:53528087-53528088	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs552114900	chr3:53528136-53528137	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs141739408	chr3:53528175-53528176	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs534895739	chr3:53528214-53528215	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs554939031	chr3:53528225-53528226	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563907355	chr3:53528230-53528231	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs5848991	chr3:53528231-53528232	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs57607865	chr3:53528240-53528241	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs537292852	chr3:53528488-53528489	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs184323	chr3:53528670-53528671	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs556880299	chr3:53528824-53528825	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs76575738	chr3:53528962-53528963	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577227161	chr3:53528965-53528966	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545998656	chr3:53528976-53528977	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553304706	chr3:53528988-53528989	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201405090	chr3:53529004-53529005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs572934677	chr3:53529012-53529013	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs312479	chr3:53529013-53529014	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
33	rs112104996	chr3:53529016-53529017	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs1045955	chr3:53529104-53529105	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562090235	chr3:53529118-53529119	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs568186948	chr3:53529124-53529125	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs312480	chr3:53529140-53529141	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs199655955	chr3:53529158-53529159	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs368361087	chr3:53529173-53529174	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs564538354	chr3:53529174-53529175	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs72556353	chr3:53529175-53529176	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs369742276	chr3:53529223-53529224	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201981216	chr3:53529253-53529254	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200913034	chr3:53529256-53529257	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201599838	chr3:53529278-53529279	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376615846	chr3:53529283-53529284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370002687	chr3:53529286-53529287	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373070896	chr3:53529290-53529291	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559287004	chr3:53529329-53529330	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528135699	chr3:53529357-53529358	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53513800-53527800	Weak transcription	Pancreas	Pancrea
2	chr3:53524200-53527600	Weak transcription	Colonic Mucosa	Colon
3	chr3:53526800-53527600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:53526800-53527600	Bivalent Enhancer	HepG2	liver
5	chr3:53526800-53527800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:53527000-53527600	Flanking Active TSS	Fetal Intestine Small	intestine
7	chr3:53527000-53527600	Enhancers	Fetal Kidney	kidney
8	chr3:53527000-53527800	Enhancers	Colon Smooth Muscle	Colon
9	chr3:53527000-53527800	Flanking Active TSS	Fetal Lung	lung
10	chr3:53527000-53527800	Enhancers	A549	lung
11	chr3:53527000-53528000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53527000-53530600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr3:53527200-53527600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr3:53527200-53527600	Enhancers	Ovary	ovary
15	chr3:53527200-53527800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr3:53527200-53529200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr3:53527200-53529200	Active TSS	Duodenum Mucosa	Duodenum
18	chr3:53527200-53529200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr3:53527400-53527600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:53527400-53527600	Enhancers	Brain Anterior Caudate	brain
21	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr3:53527400-53527800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr3:53527400-53527800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
26	chr3:53527400-53527800	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:53527400-53527800	Flanking Active TSS	Brain Angular Gyrus	brain
28	chr3:53527400-53527800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:53527400-53527800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr3:53527400-53527800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr3:53527400-53528000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:53527400-53528400	Enhancers	Stomach Mucosa	stomach
33	chr3:53527400-53529200	Active TSS	Fetal Intestine Large	intestine
34	chr3:53527400-53530200	Active TSS	Brain Hippocampus Middle	brain
35	chr3:53527400-53530400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr3:53527400-53530400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr3:53527400-53531000	Active TSS	Brain Cingulate Gyrus	brain
38	chr3:53527600-53527800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr3:53527600-53527800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:53527600-53527800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:53527600-53527800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr3:53527600-53527800	Active TSS	Colonic Mucosa	Colon
43	chr3:53527600-53527800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr3:53527600-53527800	Active TSS	Fetal Intestine Small	intestine
45	chr3:53527600-53527800	Flanking Active TSS	Fetal Kidney	kidney
46	chr3:53527600-53527800	Bivalent/Poised TSS	HepG2	liver
47	chr3:53527600-53528000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:53527600-53528000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr3:53527600-53528000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:53527600-53528000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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