Variant report

Variant	rs731138
Chromosome Location	chr12:31260682-31260683
allele	C/T
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	CTCF	chr12:31260633-31260714	GM20000	blood:	n/a	n/a
2	POLR2A	chr12:31260123-31260706	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:31260198-31260945	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:31260416-31260827	SK-N-MC	brain:	n/a	n/a
5	FOSL2	chr12:31260298-31260692	HepG2	liver:	n/a	chr12:31260582-31260594
6	POLR2A	chr12:31260473-31260686	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31226022..31227620-chr12:31260408..31262678,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270926	TF binding region
ENSG00000245614	Chromatin interaction
ENSG00000013573	Chromatin interaction

Extended variants
information (count: 212 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1046456	0.83[AMR][1000 genomes]
rs1053534	0.90[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1053552	0.81[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10743750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes]
rs10771800	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10771801	0.82[EUR][1000 genomes]
rs10771803	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10771804	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10843879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs10843880	0.82[EUR][1000 genomes]
rs10843881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes]
rs10843882	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051241	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051245	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051246	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11219	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12581793	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12816960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1808348	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs1808349	0.83[EUR][1000 genomes]
rs1974751	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1974752	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1974753	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2005898	0.81[EUR][1000 genomes]
rs2005900	0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075318	0.81[EUR][1000 genomes]
rs2075322	0.90[JPT][hapmap];0.89[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2111770	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2302848	0.82[AMR][1000 genomes]
rs2302849	0.82[JPT][hapmap];0.82[YRI][hapmap]
rs2302850	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2302853	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2352624	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs2543290	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825318	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3881296	0.83[YRI][hapmap];0.81[EUR][1000 genomes]
rs3891006	1.00[CHB][hapmap]
rs3925641	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3925642	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3930906	0.82[EUR][1000 genomes]
rs4031375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs41313157	0.82[EUR][1000 genomes]
rs4244856	0.82[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4356315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4930952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4930953	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4930954	0.89[AMR][1000 genomes]
rs4931423	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs4931431	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931432	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4931433	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61918670	0.82[AMR][1000 genomes]
rs6487966	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6487970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6487974	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6487975	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7297568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7308494	0.82[EUR][1000 genomes]
rs7308773	0.80[EUR][1000 genomes]
rs7309189	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes]
rs7952861	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7966272	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7966523	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971579	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs882055	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9750	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541441	chr12:31080091-31399162	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1038745	chr12:31087757-31305190	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv427906	chr12:31095869-31361902	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	esv2422323	chr12:31103190-31275170	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv2422496	chr12:31103190-31275170	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv2422264	chr12:31103190-31345995	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv2758303	chr12:31125467-31491104	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
14	esv2759890	chr12:31125467-31491104	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	nsv428276	chr12:31125467-31491104	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
16	esv2422254	chr12:31128132-31326508	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv430467	chr12:31148662-31410284	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	esv2751043	chr12:31148662-31499671	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
19	esv2751044	chr12:31171028-31406907	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
20	esv2751045	chr12:31171028-31410333	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
22	nsv430469	chr12:31174278-31410284	Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv541442	chr12:31186657-31391898	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
24	nsv541443	chr12:31186657-31399162	Bivalent/Poised TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv541444	chr12:31191137-31399162	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	esv2751047	chr12:31195272-31410284	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv469195	chr12:31201717-31406907	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv558032	chr12:31201717-31406907	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv515974	chr12:31201717-31452750	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
30	nsv430470	chr12:31201922-31410833	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
31	esv2751048	chr12:31201922-31414473	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
32	esv3494304	chr12:31206205-31263015	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
33	esv3494305	chr12:31206205-31263015	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
34	nsv870239	chr12:31207051-31339312	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
35	esv1832795	chr12:31209204-31261698	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
36	nsv469196	chr12:31210114-31406907	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
37	nsv469197	chr12:31210114-31406907	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
38	nsv469198	chr12:31210114-31406907	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
39	nsv469199	chr12:31210114-31406907	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
40	nsv469200	chr12:31210114-31406907	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
41	nsv558033	chr12:31210114-31406907	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
42	nsv818899	chr12:31210114-31406907	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
43	nsv558034	chr12:31210114-31408511	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
44	nsv558035	chr12:31210114-31410821	Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
45	nsv832363	chr12:31210478-31380034	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
46	nsv430471	chr12:31213735-31414473	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
47	nsv1045497	chr12:31213735-31458547	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
48	nsv558036	chr12:31214179-31406907	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
49	nsv1049249	chr12:31218687-31402690	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
50	esv2422218	chr12:31218947-31268752	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs731138	DDX11	cis	Stomach	GTEx
rs731138	DDX11	Cis_1M	lymphoblastoid	RTeQTL
rs731138	DDX11	cis	Muscle Skeletal	GTEx
rs731138	DDX11	cis	Esophagus Mucosa	GTEx
rs731138	DDX11	cis	lung	GTEx
rs731138	DDX11	cis	Whole Blood	GTEx
rs731138	DDX11	cis	Nerve Tibial	GTEx
rs731138	DDX11	cis	Thyroid	GTEx
rs731138	DDX11	cis	multi-tissue	Pritchard
rs731138	DDX11	cis	Heart Left Ventricle	GTEx
rs731138	DDX11	cis	Artery Tibial	GTEx
rs731138	DDX11	cis	Esophagus Muscularis	GTEx
rs731138	DDX11	cis	Skin Sun Exposed Lower leg	GTEx
rs731138	DDX11	cis	Adipose Subcutaneous	GTEx
rs731138	DDX11	cis	Artery Aorta	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31227800-31266400	Weak transcription	HSMMtube	muscle
2	chr12:31228000-31269800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:31228200-31261800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:31233800-31260800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:31238600-31261000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:31242600-31270200	Weak transcription	GM12878-XiMat	blood
7	chr12:31242800-31270200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:31245200-31262200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:31249800-31269800	Weak transcription	Primary T cells from cord blood	blood
10	chr12:31254600-31265800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:31256000-31269800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:31256200-31270000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:31257000-31266200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:31257200-31260800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:31257200-31261800	Weak transcription	Gastric	stomach
16	chr12:31257200-31262600	Weak transcription	Fetal Intestine Large	intestine
17	chr12:31257200-31269600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:31257200-31270000	Weak transcription	Pancreas	Pancrea
19	chr12:31257600-31261200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:31257600-31262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:31257600-31262600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:31257600-31262600	Weak transcription	HepG2	liver
23	chr12:31257600-31268400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:31257600-31269000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:31257600-31270200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:31257800-31261400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:31257800-31263000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:31257800-31269800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:31257800-31269800	Weak transcription	A549	lung
30	chr12:31257800-31270000	Weak transcription	Brain Germinal Matrix	brain
31	chr12:31257800-31270000	Weak transcription	Spleen	Spleen
32	chr12:31257800-31270200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:31258000-31261000	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:31258000-31261200	Weak transcription	Dnd41	blood
35	chr12:31258000-31262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:31258000-31263000	Weak transcription	Fetal Thymus	thymus
37	chr12:31258000-31270000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:31258200-31262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:31258200-31270000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:31258200-31270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:31258200-31270000	Weak transcription	Fetal Intestine Small	intestine
42	chr12:31258400-31270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:31258800-31270000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:31259400-31270000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:31259600-31262400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:31259600-31262400	Weak transcription	Thymus	Thymus
47	chr12:31259600-31269800	Weak transcription	Fetal Brain Female	brain
48	chr12:31259600-31270000	Weak transcription	Fetal Stomach	stomach
49	chr12:31259800-31261400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:31259800-31261600	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links