Variant report

Variant	esv3437564
Chromosome Location	chr1:85929789-85932337
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	ARID3A	chr1:85930915-85931330	HepG2	liver:	n/a	n/a
2	BACH1	chr1:85930320-85931030	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr1:85930793-85931128	HepG2	liver:	n/a	n/a
4	BRCA1	chr1:85930795-85931137	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr1:85930853-85931259	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr1:85930595-85930712	K562	blood:	n/a	n/a
7	CEBPB	chr1:85930275-85930277	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:85930556-85930607	HepG2	liver:	n/a	n/a
9	CEBPD	chr1:85930608-85931087	HepG2	liver:	n/a	n/a
10	CHD2	chr1:85929922-85931193	Hela-S3	cervix:	n/a	chr1:85930995-85931005 chr1:85930858-85930868
11	CHD2	chr1:85930536-85931192	HepG2	liver:	n/a	chr1:85930995-85931005 chr1:85930858-85930868
12	CHD2	chr1:85930504-85931142	H1-hESC	embryonic stem cell:	n/a	chr1:85930995-85931005 chr1:85930858-85930868
13	CHD2	chr1:85930121-85930322	HepG2	liver:	n/a	n/a
14	CREB1	chr1:85930137-85930857	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr1:85930374-85930616	A549	lung:	n/a	n/a
16	CREB1	chr1:85930758-85931018	A549	lung:	n/a	n/a
17	CREB1	chr1:85930092-85931322	HepG2	liver:	n/a	n/a
18	CTBP2	chr1:85929859-85931195	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:85930160-85930310	GM06990	blood:	n/a	n/a
20	CTCF	chr1:85929980-85930130	HBMEC	blood vessel:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
21	CTCF	chr1:85929980-85930130	HPAF	blood vessel:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
22	CTCF	chr1:85930200-85930350	BJ	skin:	n/a	n/a
23	CTCF	chr1:85929960-85930110	HBMEC	blood vessel:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
24	CTCF	chr1:85930020-85930170	HRE	kidney:	n/a	chr1:85930020-85930033 chr1:85930024-85930033
25	CTCF	chr1:85929860-85930010	HCFaa	heart:	n/a	n/a
26	CTCF	chr1:85929940-85930090	SK-N-SH_RA	brain:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
27	CTCF	chr1:85929960-85930110	HEK293	kidney:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
28	CTCF	chr1:85929920-85930070	WERI-Rb-1	eye:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
29	CTCF	chr1:85931580-85931730	AG10803	skin:	n/a	n/a
30	CTCF	chr1:85929900-85930050	HMEC	breast:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
31	CTCF	chr1:85930539-85930632	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:85929960-85930110	HCM	heart:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
33	CTCF	chr1:85929920-85930070	HCPEpiC	choroid plexus:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
34	CTCF	chr1:85929960-85930110	HRPEpiC	eye:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
35	CTCF	chr1:85929960-85930110	SAEC	small airway:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
36	CTCF	chr1:85930020-85930170	NHEK	skin:	n/a	chr1:85930020-85930033 chr1:85930024-85930033
37	CTCF	chr1:85929900-85930050	SAEC	small airway:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
38	CTCF	chr1:85930543-85930616	Fibrobl	skin:	n/a	n/a
39	CTCF	chr1:85930617-85930621	Fibrobl	skin:	n/a	n/a
40	CTCF	chr1:85929959-85930051	A549	lung:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
41	CTCF	chr1:85929960-85930110	BJ	skin:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
42	CTCF	chr1:85930040-85930190	AG04450	lung:	n/a	n/a
43	CTCF	chr1:85929880-85930030	HepG2	liver:	n/a	n/a
44	CTCF	chr1:85929820-85929970	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr1:85929980-85930130	AG04449	skin:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
46	CTCF	chr1:85929940-85930090	HUVEC	blood vessel:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036
47	CTCF	chr1:85930040-85930190	GM06990	blood:	n/a	n/a
48	CTCF	chr1:85930080-85930230	Caco-2	colon:	n/a	n/a
49	CTCF	chr1:85930260-85930550	AG04449	skin:	n/a	n/a
50	CTCF	chr1:85929980-85930130	AG09319	gingival:	n/a	chr1:85930020-85930033 chr1:85930024-85930033 chr1:85930018-85930036

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85930809-85930859	PFSK-1	brain:	n/a
2	chr1:85929949-85929999	HL-60	blood:	n/a
3	chr1:85930809-85930859	PFSK-1	brain:	n/a
4	chr1:85929949-85929999	HL-60	blood:	n/a
5	chr1:85929755-85929805	GM19239	blood:	n/a
6	chr1:85930813-85930863	AG04449	skin:	fetal
7	chr1:85931301-85931351	AG04449	skin:	fetal
8	chr1:85931072-85931122	HRCEpiC	kidney:	n/a
9	chr1:85931072-85931122	GM06990	blood:	n/a
10	chr1:85931161-85931211	HL-60	blood:	n/a
11	chr1:85929949-85929999	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:85931116-85931166	NB4	blood:	n/a
13	chr1:85931226-85931276	BJ	skin:	n/a
14	chr1:85930476-85930526	AG04450	lung:	fetal
15	chr1:85929755-85929805	HCPEpiC	choroid plexus:	n/a
16	chr1:85931161-85931211	AG04450	lung:	fetal
17	chr1:85930151-85930201	GM19239	blood:	n/a
18	chr1:85931161-85931211	HNPCEpiC	eye:	n/a
19	chr1:85929949-85929999	NHBE	bronchial:	n/a
20	chr1:85931083-85931133	GM12892	blood:	n/a
21	chr1:85931116-85931166	U87	brain:	n/a
22	chr1:85931167-85931217	IMR90	lung:	fetal
23	chr1:85931116-85931166	Jurkat	blood:	n/a
24	chr1:85931083-85931133	HEEpiC	esophagus:	n/a
25	chr1:85931116-85931166	GM06990	blood:	n/a
26	chr1:85929949-85929999	NHDF-neo	bronchial:	n/a
27	chr1:85930809-85930859	Caco-2	colon:	n/a
28	chr1:85931072-85931122	BE2_C	brain:	n/a
29	chr1:85929949-85929999	MCF10A-Er-Src	breast:	n/a
30	chr1:85930151-85930201	HAEpiC	amniotic membrane:	n/a
31	chr1:85930865-85930915	HCM	heart:	n/a
32	chr1:85930306-85930356	GM12892	blood:	n/a
33	chr1:85931116-85931166	AG09319	gingival:	n/a
34	chr1:85929949-85929999	HCT-116	colon:	n/a
35	chr1:85930306-85930356	PFSK-1	brain:	n/a
36	chr1:85931301-85931351	NT2-D1	testis:	n/a
37	chr1:85930813-85930863	HCF	heart:	n/a
38	chr1:85930151-85930201	SK-N-SH_RA	brain:	n/a
39	chr1:85930865-85930915	A549	lung:	n/a
40	chr1:85930813-85930863	HUVEC	blood vessel:	n/a
41	chr1:85931116-85931166	A549	lung:	n/a
42	chr1:85930306-85930356	AG04449	skin:	fetal
43	chr1:85931116-85931166	AG04449	skin:	fetal
44	chr1:85929949-85929999	SK-N-SH	brain:	n/a
45	chr1:85930476-85930526	H1-hESC	embryonic stem cell:	embryo
46	chr1:85930813-85930863	GM19239	blood:	n/a
47	chr1:85930306-85930356	HCF	heart:	n/a
48	chr1:85929755-85929805	NHDF-neo	bronchial:	n/a
49	chr1:85930865-85930915	HNPCEpiC	eye:	n/a
50	chr1:85931072-85931122	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:85920031..85922123-chr1:85928283..85929923,2	K562	blood:
2	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
3	chr1:85744913..85746846-chr1:85930995..85932650,2	MCF-7	breast:
4	chr1:85930091..85932037-chr1:86045511..86048058,4	MCF-7	breast:
5	chr1:85931146..85932726-chr1:86032446..86035420,2	MCF-7	breast:
6	chr1:85929622..85931400-chr1:86044914..86046491,2	MCF-7	breast:
7	chr1:85929364..85932220-chr1:86042357..86044099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273264	TF binding region
DDAH1	TF binding region
ENSG00000273264	CpG island
DDAH1	CpG island
ENSG00000142871	chromatin interactions
ENSG00000153904	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188768868	chr1:85929803-85929804	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs75390293	chr1:85929809-85929810	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs552484284	chr1:85929849-85929850	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs192007733	chr1:85929859-85929860	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531862521	chr1:85929862-85929863	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs76015079	chr1:85929911-85929912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs568428389	chr1:85929936-85929937	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs202131092	chr1:85929957-85929958	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569055955	chr1:85929960-85929961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs533888454	chr1:85929981-85929982	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs183375589	chr1:85930018-85930019	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs570847882	chr1:85930099-85930100	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs187244487	chr1:85930131-85930132	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370672955	chr1:85930154-85930155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556065977	chr1:85930185-85930186	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs4001153	chr1:85930273-85930274	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs5775842	chr1:85930284-85930285	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs576342490	chr1:85930288-85930289	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs397820642	chr1:85930293-85930294	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs34032001	chr1:85930294-85930295	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs538004398	chr1:85930313-85930314	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs535664001	chr1:85930378-85930379	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs1563252	chr1:85930394-85930395	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs201370663	chr1:85930439-85930440	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs145336450	chr1:85930441-85930442	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150911154	chr1:85930452-85930453	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs572371256	chr1:85930465-85930466	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs139393958	chr1:85930469-85930470	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs200661380	chr1:85930482-85930483	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs115687004	chr1:85930530-85930531	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs368570222	chr1:85930547-85930548	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs372772469	chr1:85930554-85930555	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs376320085	chr1:85930555-85930556	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs144754279	chr1:85930605-85930606	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs577658938	chr1:85930690-85930691	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs570812494	chr1:85930746-85930747	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs191616432	chr1:85930750-85930751	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs562727320	chr1:85930764-85930765	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs531754809	chr1:85930833-85930834	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs548395059	chr1:85930864-85930865	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs562004653	chr1:85930873-85930874	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs182328457	chr1:85930887-85930888	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs372712915	chr1:85930911-85930912	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs186942293	chr1:85930923-85930924	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs12735238	chr1:85930971-85930972	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs111532727	chr1:85930988-85930989	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs201892184	chr1:85931005-85931006	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs12044882	chr1:85931014-85931015	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs192299809	chr1:85931015-85931016	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs368244007	chr1:85931032-85931033	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85917400-85929800	Weak transcription	Esophagus	oesophagus
2	chr1:85923200-85929800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85926800-85929800	Weak transcription	Placenta	Placenta
4	chr1:85928200-85931000	Active TSS	NHLF	lung
5	chr1:85928400-85929800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:85928400-85929800	Enhancers	Small Intestine	intestine
7	chr1:85928400-85929800	Flanking Active TSS	Osteobl	bone
8	chr1:85928400-85931400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:85928400-85931600	Active TSS	Brain Anterior Caudate	brain
10	chr1:85928600-85929800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:85928600-85931600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:85928800-85929800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:85928800-85929800	Active TSS	Brain Hippocampus Middle	brain
14	chr1:85928800-85929800	Weak transcription	Lung	lung
15	chr1:85928800-85931200	Active TSS	Liver	Liver
16	chr1:85928800-85931400	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:85929000-85929800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:85929000-85929800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:85929000-85929800	Weak transcription	Stomach Mucosa	stomach
20	chr1:85929000-85931200	Active TSS	Fetal Intestine Large	intestine
21	chr1:85929000-85931600	Active TSS	Brain Cingulate Gyrus	brain
22	chr1:85929000-85931600	Active TSS	HSMM	muscle
23	chr1:85929000-85931600	Active TSS	HSMMtube	muscle
24	chr1:85929200-85929800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:85929200-85929800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr1:85929200-85929800	Bivalent Enhancer	Fetal Heart	heart
27	chr1:85929200-85929800	Active TSS	Fetal Muscle Trunk	muscle
28	chr1:85929200-85930000	Bivalent/Poised TSS	HepG2	liver
29	chr1:85929200-85931000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:85929200-85931000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:85929200-85931000	Active TSS	NH-A	brain
32	chr1:85929200-85931200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:85929200-85931200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:85929200-85931200	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr1:85929200-85931400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:85929200-85931400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:85929200-85931400	Active TSS	NHDF-Ad	bronchial
38	chr1:85929200-85931600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:85929200-85931600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr1:85929200-85931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:85929200-85931800	Active TSS	Brain Angular Gyrus	brain
42	chr1:85929400-85929800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:85929400-85929800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr1:85929400-85929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:85929400-85929800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:85929400-85929800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:85929400-85929800	Flanking Active TSS	Fetal Lung	lung
48	chr1:85929400-85929800	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr1:85929400-85929800	Flanking Active TSS	Fetal Stomach	stomach
50	chr1:85929400-85929800	Bivalent Enhancer	Fetal Thymus	thymus

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