Variant report

Variant	nsv560437
Chromosome Location	chr12:120803783-120809590
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	chr12:120805688-120805946	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:120803140-120803930	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:120805721-120805897	K562	blood:	n/a	n/a
6	CEBPB	chr12:120803531-120803856	HepG2	liver:	n/a	n/a
7	CEBPB	chr12:120805686-120806014	IMR90	lung:	n/a	n/a
8	CEBPB	chr12:120805698-120805911	K562	blood:	n/a	n/a
9	CEBPB	chr12:120803150-120803949	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:120803660-120803837	HepG2	liver:	n/a	n/a
11	CHD1	chr12:120806240-120806355	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr12:120807426-120807626	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr12:120808584-120808585	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr12:120807784-120808676	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:120804835-120805257	K562	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
16	CTCF	chr12:120805060-120805210	HMF	breast:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
17	CTCF	chr12:120805080-120805230	GM12872	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
18	CTCF	chr12:120805042-120805219	GM13977	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
19	CTCF	chr12:120805080-120805230	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
20	CTCF	chr12:120805080-120805230	HRE	kidney:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
21	CTCF	chr12:120805015-120805248	GM19240	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
22	CTCF	chr12:120805020-120805170	GM12867	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
23	CTCF	chr12:120805040-120805190	GM12868	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
24	CTCF	chr12:120805060-120805210	GM12866	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
25	CTCF	chr12:120805040-120805190	HFF-Myc	foreskin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
26	CTCF	chr12:120805081-120805254	GM20000	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
27	CTCF	chr12:120805060-120805210	GM12865	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
28	CTCF	chr12:120805080-120805230	NHLF	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
29	CTCF	chr12:120805036-120805186	Fibrobl	skin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
30	CTCF	chr12:120805080-120805230	HFF-Myc	foreskin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
31	CTCF	chr12:120805080-120805230	HAc	cerebellar:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
32	CTCF	chr12:120805009-120805240	A549	lung:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
33	CTCF	chr12:120805070-120805211	GM13976	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
34	CTCF	chr12:120805040-120805190	GM12871	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
35	CTCF	chr12:120804900-120805342	H1-hESC	embryonic stem cell:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
36	CTCF	chr12:120805020-120805170	BE2_C	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
37	CTCF	chr12:120805040-120805190	GM12874	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
38	CTCF	chr12:120805057-120805208	SK-N-SH_RA	brain:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
39	CTCF	chr12:120805080-120805230	HepG2	liver:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
40	CTCF	chr12:120804929-120805280	HepG2	liver:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
41	CTCF	chr12:120805060-120805210	GM12873	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
42	CTCF	chr12:120805040-120805190	BJ	skin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
43	CTCF	chr12:120804980-120805236	GM12891	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
44	CTCF	chr12:120805060-120805210	HFF	foreskin:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
45	CTCF	chr12:120805047-120805251	Pancreas_OC	pancreas:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
46	CTCF	chr12:120805040-120805190	GM12864	blood:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
47	CTCF	chr12:120804900-120805050	RPTEC	kidney:	n/a	n/a
48	CTCF	chr12:120805040-120805190	HBMEC	blood vessel:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
49	CTCF	chr12:120805080-120805230	HCM	heart:	n/a	chr12:120805126-120805139 chr12:120805124-120805142
50	CTCF	chr12:120805240-120805390	GM12866	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120809271-120809321	HL-60	blood:	n/a
2	chr12:120807316-120807366	T-47D	breast:	n/a
3	chr12:120807285-120807335	NHDF-neo	bronchial:	n/a
4	chr12:120806617-120806667	Hepatocyte	liver:	n/a
5	chr12:120807618-120807668	HUVEC	blood vessel:	n/a
6	chr12:120806383-120806433	AG04450	lung:	fetal
7	chr12:120807316-120807366	HNPCEpiC	eye:	n/a
8	chr12:120807285-120807335	BJ	skin:	n/a
9	chr12:120806178-120806228	GM12878	blood:	n/a
10	chr12:120806617-120806667	H1-hESC	embryonic stem cell:	embryo
11	chr12:120807618-120807668	SK-N-MC	brain:	n/a
12	chr12:120809271-120809321	AG04450	lung:	fetal
13	chr12:120806178-120806228	RPTEC	kidney:	n/a
14	chr12:120807309-120807359	SK-N-SH_RA	brain:	n/a
15	chr12:120807618-120807668	SK-N-SH_RA	brain:	n/a
16	chr12:120807618-120807668	Hepatocyte	liver:	n/a
17	chr12:120807285-120807335	SK-N-SH_RA	brain:	n/a
18	chr12:120806383-120806433	RPTEC	kidney:	n/a
19	chr12:120807618-120807668	HRE	kidney:	n/a
20	chr12:120807618-120807668	LNCaP	prostate:	n/a
21	chr12:120807316-120807366	MCF10A-Er-Src	breast:	n/a
22	chr12:120806383-120806433	GM12878	blood:	n/a
23	chr12:120807316-120807366	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:120807285-120807335	HIPEpiC	eye:	n/a
25	chr12:120807309-120807359	HAEpiC	amniotic membrane:	n/a
26	chr12:120806880-120806930	LNCaP	prostate:	n/a
27	chr12:120806178-120806228	PrEC	prostate:	n/a
28	chr12:120806383-120806433	PrEC	prostate:	n/a
29	chr12:120806617-120806667	NHBE	bronchial:	n/a
30	chr12:120806617-120806667	Hela-S3	cervix:	n/a
31	chr12:120806178-120806228	SK-N-SH_RA	brain:	n/a
32	chr12:120807316-120807366	SK-N-SH_RA	brain:	n/a
33	chr12:120807316-120807366	NHDF-neo	bronchial:	n/a
34	chr12:120807316-120807366	NT2-D1	testis:	n/a
35	chr12:120806178-120806228	NB4	blood:	n/a
36	chr12:120806178-120806228	H1-hESC	embryonic stem cell:	embryo
37	chr12:120806617-120806667	IMR90	lung:	fetal
38	chr12:120806880-120806930	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:120807285-120807335	RPTEC	kidney:	n/a
40	chr12:120806178-120806228	HRPEpiC	eye:	n/a
41	chr12:120807309-120807359	HRPEpiC	eye:	n/a
42	chr12:120806617-120806667	BJ	skin:	n/a
43	chr12:120806880-120806930	K562	blood:	n/a
44	chr12:120807285-120807335	AoSMC	blood vessel:	n/a
45	chr12:120806880-120806930	HL-60	blood:	n/a
46	chr12:120809271-120809321	GM19239	blood:	n/a
47	chr12:120809271-120809321	H1-hESC	embryonic stem cell:	embryo
48	chr12:120807618-120807668	A549	lung:	n/a
49	chr12:120809271-120809321	AG04449	skin:	fetal
50	chr12:120807316-120807366	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120807836..120809663-chr12:120875850..120878030,2	MCF-7	breast:
2	chr12:120798803..120801151-chr12:120802233..120803877,2	K562	blood:
3	chr12:120804639..120805497-chr12:120877167..120877760,2	MCF-7	breast:
4	chr12:120794069..120794978-chr12:120804760..120805597,2	MCF-7	breast:
5	chr12:120803522..120805721-chr12:120933234..120935368,2	MCF-7	breast:
6	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
7	chr12:120795985..120796800-chr12:120804726..120805531,3	MCF-7	breast:
8	chr12:120801365..120804968-chr12:120812471..120817033,4	K562	blood:
9	chr12:120803547..120806395-chr12:120907093..120909089,2	MCF-7	breast:
10	chr12:120727901..120731375-chr12:120804063..120807248,3	K562	blood:
11	chr12:120801772..120804938-chr12:120832340..120834003,3	MCF-7	breast:
12	chr12:120799434..120804968-chr12:120812300..120816168,6	K562	blood:
13	chr12:120727930..120729812-chr12:120802120..120804921,2	MCF-7	breast:

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

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

Extended variants
information (count: 157 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2238160	chr12:120803783-120803784	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562420713	chr12:120803808-120803809	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs548521104	chr12:120803815-120803816	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs372157115	chr12:120803860-120803861	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs188477247	chr12:120803929-120803930	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs531353994	chr12:120803999-120804000	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs544885298	chr12:120804037-120804038	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs545909246	chr12:120804038-120804039	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs564754353	chr12:120804108-120804109	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs533481589	chr12:120804150-120804151	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs192730512	chr12:120804222-120804223	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs553913933	chr12:120804237-120804238	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs142277286	chr12:120804238-120804239	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs184749352	chr12:120804250-120804251	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs374830084	chr12:120804268-120804269	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs537867010	chr12:120804286-120804287	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs557767558	chr12:120804345-120804346	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs576286371	chr12:120804485-120804486	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs571186292	chr12:120804499-120804500	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs2238161	chr12:120804508-120804509	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs561934904	chr12:120804545-120804546	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs371718393	chr12:120804692-120804693	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs61945847	chr12:120804694-120804695	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189269808	chr12:120804703-120804704	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs35991355	chr12:120804713-120804714	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs376041249	chr12:120804735-120804736	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs542677092	chr12:120804789-120804790	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs556308500	chr12:120804799-120804800	Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs79858704	chr12:120804864-120804865	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs544996677	chr12:120804910-120804911	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs564917616	chr12:120804944-120804945	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs139514194	chr12:120805024-120805025	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs540577615	chr12:120805051-120805052	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs560691957	chr12:120805084-120805085	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs529486567	chr12:120805085-120805086	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs76323076	chr12:120805101-120805102	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs562629294	chr12:120805110-120805111	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs191543938	chr12:120805136-120805137	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs546638394	chr12:120805187-120805188	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs75404276	chr12:120805204-120805205	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs372722701	chr12:120805217-120805218	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs567099057	chr12:120805357-120805358	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs144164670	chr12:120805415-120805416	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs73416955	chr12:120805440-120805441	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534053642	chr12:120805454-120805455	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs547396770	chr12:120805520-120805521	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs567419745	chr12:120805619-120805620	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs536435820	chr12:120805620-120805621	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs556420354	chr12:120805637-120805638	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs183735318	chr12:120805647-120805648	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	6 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:582 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120795800-120804200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:120796200-120805000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:120799600-120804000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:120799600-120804200	Weak transcription	Left Ventricle	heart
5	chr12:120800000-120805000	Enhancers	Fetal Intestine Large	intestine
6	chr12:120800200-120804000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:120800200-120804000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:120800200-120805200	Genic enhancers	Fetal Intestine Small	intestine
9	chr12:120800200-120805400	Weak transcription	Ovary	ovary
10	chr12:120800400-120804800	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:120800400-120805000	Weak transcription	Esophagus	oesophagus
12	chr12:120800400-120805600	Weak transcription	Right Atrium	heart
13	chr12:120800600-120804400	Weak transcription	Fetal Heart	heart
14	chr12:120800600-120804600	Weak transcription	Right Ventricle	heart
15	chr12:120800800-120804600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:120800800-120804600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:120800800-120805000	Weak transcription	Brain Angular Gyrus	brain
18	chr12:120801200-120804200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:120801400-120803800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:120801400-120804400	Weak transcription	Brain Substantia Nigra	brain
21	chr12:120801600-120803800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:120801600-120804000	Enhancers	Gastric	stomach
23	chr12:120801800-120803800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr12:120801800-120804600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:120802000-120803800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:120802200-120803800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:120802200-120804600	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:120802200-120805200	Enhancers	Stomach Mucosa	stomach
29	chr12:120802400-120805800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:120802600-120804200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:120803000-120803800	Enhancers	HepG2	liver
32	chr12:120803000-120804000	Strong transcription	Fetal Kidney	kidney
33	chr12:120803000-120805600	Enhancers	Pancreas	Pancrea
34	chr12:120803200-120803800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
35	chr12:120803200-120804400	Enhancers	Liver	Liver
36	chr12:120803200-120804600	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:120803200-120804800	Enhancers	Brain Hippocampus Middle	brain
38	chr12:120803200-120805000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:120803200-120805600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:120803400-120803800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:120803400-120804000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:120803400-120804000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
43	chr12:120803400-120804000	Enhancers	Placenta	Placenta
44	chr12:120803400-120804200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:120803400-120804400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:120803400-120805200	Enhancers	Brain Anterior Caudate	brain
47	chr12:120803400-120805400	Genic enhancers	Fetal Stomach	stomach
48	chr12:120803400-120806000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:120803600-120803800	Genic enhancers	Fetal Lung	lung
50	chr12:120803600-120804600	Weak transcription	H9 Cell Line	embryonic stem cell

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