Variant report

Variant	esv14211
Chromosome Location	chr12:120801254-120809932
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	chr12:120803636-120803861	HepG2	liver:	n/a	n/a
2	BACH1	chr12:120807452-120807797	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr12:120803221-120803454	A549	lung:	n/a	n/a
4	CEBPB	chr12:120805698-120805911	K562	blood:	n/a	n/a
5	CEBPB	chr12:120803135-120803468	K562	blood:	n/a	n/a
6	CEBPB	chr12:120805686-120806014	IMR90	lung:	n/a	n/a
7	CEBPB	chr12:120803150-120803949	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:120805721-120805897	K562	blood:	n/a	n/a
9	CEBPB	chr12:120801783-120801807	K562	blood:	n/a	n/a
10	CEBPB	chr12:120801773-120801831	HepG2	liver:	n/a	n/a
11	CEBPB	chr12:120803531-120803856	HepG2	liver:	n/a	n/a
12	CEBPB	chr12:120805688-120805946	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:120803172-120803459	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:120803660-120803837	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:120803140-120803930	HepG2	liver:	n/a	n/a
16	CHD1	chr12:120807426-120807626	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr12:120806240-120806355	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr12:120808584-120808585	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTBP2	chr12:120807784-120808676	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr12:120801480-120801630	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr12:120805060-120805210	GM12867	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
22	CTCF	chr12:120805001-120805273	K562	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
23	CTCF	chr12:120805040-120805190	HBMEC	blood vessel:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
24	CTCF	chr12:120805009-120805240	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
25	CTCF	chr12:120805060-120805210	GM12871	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
26	CTCF	chr12:120805020-120805170	HPAF	blood vessel:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
27	CTCF	chr12:120805057-120805208	SK-N-SH_RA	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
28	CTCF	chr12:120805020-120805170	GM12867	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
29	CTCF	chr12:120805060-120805210	HCM	heart:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
30	CTCF	chr12:120801400-120801550	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr12:120805064-120805233	GM12878	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
32	CTCF	chr12:120805080-120805230	AG04450	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
33	CTCF	chr12:120805080-120805230	HepG2	liver:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
34	CTCF	chr12:120805040-120805190	GM12869	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
35	CTCF	chr12:120804980-120805130	GM06990	blood:	n/a	n/a
36	CTCF	chr12:120805040-120805190	GM12872	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
37	CTCF	chr12:120805080-120805230	HMF	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
38	CTCF	chr12:120805047-120805240	HUVEC	blood vessel:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
39	CTCF	chr12:120805040-120805190	GM12870	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
40	CTCF	chr12:120805020-120805170	GM12878	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
41	CTCF	chr12:120805080-120805230	HPF	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
42	CTCF	chr12:120805080-120805230	HAc	cerebellar:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
43	CTCF	chr12:120805020-120805170	GM12868	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
44	CTCF	chr12:120805020-120805170	GM12875	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
45	CTCF	chr12:120804980-120805130	GM12873	blood:	n/a	n/a
46	CTCF	chr12:120805040-120805190	NHEK	skin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
47	CTCF	chr12:120805040-120805190	GM12864	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
48	CTCF	chr12:120804996-120805273	SK-N-SH_RA	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
49	CTCF	chr12:120805080-120805230	NHLF	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
50	CTCF	chr12:120805063-120805208	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120807309-120807359	CMK	blood:	n/a
2	chr12:120806617-120806667	AoSMC	blood vessel:	n/a
3	chr12:120806178-120806228	AG04449	skin:	fetal
4	chr12:120807309-120807359	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:120806880-120806930	SK-N-SH	brain:	n/a
6	chr12:120809271-120809321	HRE	kidney:	n/a
7	chr12:120806383-120806433	A549	lung:	n/a
8	chr12:120807285-120807335	HL-60	blood:	n/a
9	chr12:120807618-120807668	T-47D	breast:	n/a
10	chr12:120807618-120807668	H1-hESC	embryonic stem cell:	embryo
11	chr12:120807309-120807359	MCF10A-Er-Src	breast:	n/a
12	chr12:120806617-120806667	A549	lung:	n/a
13	chr12:120807316-120807366	HMEC	breast:	n/a
14	chr12:120809271-120809321	GM12891	blood:	n/a
15	chr12:120807309-120807359	ECC-1	luminal epithelium:	n/a
16	chr12:120807316-120807366	HCPEpiC	choroid plexus:	n/a
17	chr12:120806617-120806667	PFSK-1	brain:	n/a
18	chr12:120807618-120807668	RPTEC	kidney:	n/a
19	chr12:120807618-120807668	HCF	heart:	n/a
20	chr12:120809271-120809321	NT2-D1	testis:	n/a
21	chr12:120809271-120809321	ECC-1	luminal epithelium:	n/a
22	chr12:120809271-120809321	AG09309	skin:	n/a
23	chr12:120807285-120807335	Jurkat	blood:	n/a
24	chr12:120807316-120807366	PrEC	prostate:	n/a
25	chr12:120806178-120806228	GM12892	blood:	n/a
26	chr12:120806617-120806667	HRCEpiC	kidney:	n/a
27	chr12:120807316-120807366	ECC-1	luminal epithelium:	n/a
28	chr12:120806880-120806930	HEK293	kidney:	embryo
29	chr12:120802252-120802302	HMEC	breast:	n/a
30	chr12:120802252-120802302	PFSK-1	brain:	n/a
31	chr12:120807309-120807359	HNPCEpiC	eye:	n/a
32	chr12:120806880-120806930	CMK	blood:	n/a
33	chr12:120806178-120806228	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:120807316-120807366	HepG2	liver:	n/a
35	chr12:120807309-120807359	GM19239	blood:	n/a
36	chr12:120806383-120806433	Hela-S3	cervix:	n/a
37	chr12:120806617-120806667	NHDF-neo	bronchial:	n/a
38	chr12:120807309-120807359	NT2-D1	testis:	n/a
39	chr12:120807285-120807335	SK-N-SH_RA	brain:	n/a
40	chr12:120806383-120806433	NHBE	bronchial:	n/a
41	chr12:120806178-120806228	MCF10A-Er-Src	breast:	n/a
42	chr12:120807309-120807359	HRE	kidney:	n/a
43	chr12:120806383-120806433	K562	blood:	n/a
44	chr12:120809271-120809321	SAEC	small airway:	n/a
45	chr12:120807285-120807335	T-47D	breast:	n/a
46	chr12:120807618-120807668	GM06990	blood:	n/a
47	chr12:120802252-120802302	SK-N-SH	brain:	n/a
48	chr12:120806617-120806667	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:120806383-120806433	AG09309	skin:	n/a
50	chr12:120806178-120806228	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120803522..120805721-chr12:120933234..120935368,2	MCF-7	breast:
2	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:
3	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:
4	chr12:120800502..120802375-chr12:120882088..120884770,2	MCF-7	breast:
5	chr12:120794069..120794978-chr12:120804760..120805597,2	MCF-7	breast:
6	chr12:120801326..120803208-chr12:120818906..120821369,2	MCF-7	breast:
7	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:
8	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
9	chr12:120804639..120805497-chr12:120877167..120877760,2	MCF-7	breast:
10	chr12:120728315..120730053-chr12:120799765..120801702,2	MCF-7	breast:
11	chr12:120798803..120801151-chr12:120802233..120803877,2	K562	blood:
12	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
13	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
14	chr12:120799433..120803407-chr12:120804628..120808209,5	K562	blood:
15	chr12:120795985..120796800-chr12:120804726..120805531,3	MCF-7	breast:
16	chr12:120801772..120804938-chr12:120832340..120834003,3	MCF-7	breast:
17	chr12:120727930..120729812-chr12:120802120..120804921,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRT4-5	chr12:120807162-120809425	NONHSAT031167
2	lnc-SIRT4-5	chr12:120809191-120809438	NONHSAT031169

Variant related genes	Relation type
MSI1	TF binding region
RPS27P25	TF binding region
MSI1	CpG island
RPS27P25	CpG island
ENSG00000202538	chromatin interactions
ENSG00000111780	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000239881	chromatin interactions
ENSG00000257218	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000170855	chromatin interactions
ENSG00000111775	chromatin interactions
ENSG00000088986	chromatin interactions
ENSG00000135097	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35714587	chr12:120801268-120801269	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs561684369	chr12:120801341-120801342	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs374562665	chr12:120801350-120801351	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs563076234	chr12:120801389-120801390	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs200912662	chr12:120801392-120801393	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs545641354	chr12:120801405-120801406	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs562660859	chr12:120801439-120801440	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs530754662	chr12:120801467-120801468	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs186071742	chr12:120801474-120801475	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs34962901	chr12:120801600-120801601	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs140117430	chr12:120801660-120801661	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs55971099	chr12:120801703-120801704	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs532889472	chr12:120801704-120801705	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs12311915	chr12:120801741-120801742	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs566504903	chr12:120801797-120801798	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs150285638	chr12:120801798-120801799	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs548868978	chr12:120801799-120801800	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs568534702	chr12:120801832-120801833	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs548480630	chr12:120801848-120801849	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs1179450	chr12:120801856-120801857	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs11065093	chr12:120801892-120801893	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs137894023	chr12:120801946-120801947	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs191182615	chr12:120801977-120801978	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs3782901	chr12:120802018-120802019	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs553052007	chr12:120802098-120802099	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs573191374	chr12:120802114-120802115	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs143360427	chr12:120802120-120802121	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs562029756	chr12:120802134-120802135	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs546993114	chr12:120802148-120802149	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs575189030	chr12:120802151-120802152	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs374955953	chr12:120802192-120802193	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs183099159	chr12:120802252-120802253	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs563983947	chr12:120802258-120802259	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs529280216	chr12:120802376-120802377	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371143358	chr12:120802454-120802455	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs200502069	chr12:120802463-120802464	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs367696966	chr12:120802480-120802481	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs368434505	chr12:120802496-120802497	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs370330303	chr12:120802497-120802498	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs374374225	chr12:120802510-120802511	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs376030026	chr12:120802512-120802513	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs201913745	chr12:120802527-120802528	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs111550733	chr12:120802562-120802563	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs371086537	chr12:120802591-120802592	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs201453707	chr12:120802598-120802599	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs147530067	chr12:120802599-120802600	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs186009127	chr12:120802613-120802614	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs138499265	chr12:120802658-120802659	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs201161742	chr12:120802668-120802669	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs537768938	chr12:120802735-120802736	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120789400-120802000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:120798400-120801600	Enhancers	Fetal Brain Male	brain
6	chr12:120799600-120804000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:120799600-120804200	Weak transcription	Left Ventricle	heart
8	chr12:120800000-120801400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:120800000-120801800	Enhancers	Fetal Muscle Leg	muscle
10	chr12:120800000-120802200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:120800000-120805000	Enhancers	Fetal Intestine Large	intestine
12	chr12:120800200-120801400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr12:120800200-120801600	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:120800200-120802200	Genic enhancers	H1 Cell Line	embryonic stem cell
15	chr12:120800200-120802600	Enhancers	Brain Anterior Caudate	brain
16	chr12:120800200-120803400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:120800200-120804000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:120800200-120804000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
20	chr12:120800200-120805400	Weak transcription	Ovary	ovary
21	chr12:120800400-120801400	Enhancers	Brain Hippocampus Middle	brain
22	chr12:120800400-120801800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr12:120800400-120802200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:120800400-120802200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:120800400-120803000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:120800400-120803000	Weak transcription	Fetal Kidney	kidney
27	chr12:120800400-120804800	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:120800400-120805000	Weak transcription	Esophagus	oesophagus
29	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
30	chr12:120800600-120801400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:120800600-120801800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:120800600-120802600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:120800600-120802600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
34	chr12:120800600-120803400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:120800600-120804400	Weak transcription	Fetal Heart	heart
36	chr12:120800600-120804600	Weak transcription	Right Ventricle	heart
37	chr12:120800800-120801600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:120800800-120801600	Enhancers	Small Intestine	intestine
39	chr12:120800800-120801800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:120800800-120802200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
41	chr12:120800800-120802200	Weak transcription	Stomach Mucosa	stomach
42	chr12:120800800-120803200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:120800800-120803600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:120800800-120804600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:120800800-120804600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:120800800-120805000	Weak transcription	Brain Angular Gyrus	brain
47	chr12:120801000-120802000	Weak transcription	Fetal Lung	lung
48	chr12:120801000-120802800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:120801000-120803400	Strong transcription	Fetal Stomach	stomach
50	chr12:120801200-120801400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links