Variant report

Variant	rs7972290
Chromosome Location	chr12:1443043-1443044
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1435926..1439325-chr12:1439627..1443045,4	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1005394	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1012719	0.84[CEU][hapmap];0.93[ASN][1000 genomes]
rs10161285	0.82[CHB][hapmap]
rs10773938	0.88[CHB][hapmap]
rs10773941	0.88[CHB][hapmap]
rs10848452	0.83[EUR][1000 genomes]
rs10848456	0.89[CHB][hapmap]
rs10848458	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10848466	0.88[CHB][hapmap]
rs10848468	0.88[CHB][hapmap]
rs10848470	0.82[EUR][1000 genomes]
rs11061677	0.92[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes]
rs11061679	0.92[CEU][hapmap];0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs11061682	0.92[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes]
rs11061691	0.92[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes]
rs11061698	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11061699	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11061704	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11061705	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061707	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061711	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11061712	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11061714	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061721	0.88[CHB][hapmap]
rs11061724	0.88[CHB][hapmap]
rs11061729	0.88[CHB][hapmap]
rs11061731	0.86[CHB][hapmap]
rs11061732	0.88[CHB][hapmap]
rs11061733	0.88[CHB][hapmap]
rs11061734	0.88[CHB][hapmap]
rs11061735	0.88[CHB][hapmap]
rs11061736	0.84[CEU][hapmap];0.94[CHB][hapmap];0.82[EUR][1000 genomes]
rs11061737	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs11061740	0.82[EUR][1000 genomes]
rs11061741	0.84[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs11061748	0.82[EUR][1000 genomes]
rs11061750	0.82[EUR][1000 genomes]
rs11609271	0.82[EUR][1000 genomes]
rs11609292	0.82[EUR][1000 genomes]
rs11613252	0.84[CEU][hapmap];0.88[CHB][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11614113	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11830570	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11831980	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs11836372	0.82[CHB][hapmap]
rs11837688	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12296944	0.84[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs12298813	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[ASN][1000 genomes]
rs12301879	0.88[ASN][1000 genomes]
rs12301937	0.84[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs12302807	0.81[EUR][1000 genomes]
rs12304139	0.82[EUR][1000 genomes]
rs12305871	0.88[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12306160	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12306260	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12307046	0.84[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs12307141	0.86[EUR][1000 genomes]
rs12308521	0.88[ASN][1000 genomes]
rs12311864	0.82[EUR][1000 genomes]
rs12312647	0.86[CEU][hapmap];0.86[CHB][hapmap];0.82[EUR][1000 genomes]
rs12314672	0.87[CHB][hapmap]
rs12314755	0.82[EUR][1000 genomes]
rs12314845	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12315490	0.81[EUR][1000 genomes]
rs12315865	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12316105	0.82[EUR][1000 genomes]
rs12316687	0.84[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap];0.82[EUR][1000 genomes]
rs12317217	0.82[EUR][1000 genomes]
rs12317763	0.80[CEU][hapmap];0.82[CHB][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12320293	0.82[CHB][hapmap]
rs12320911	0.93[ASN][1000 genomes]
rs12321803	0.84[CEU][hapmap];0.88[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs12422537	0.82[EUR][1000 genomes]
rs12422548	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12423105	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12424140	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs12425175	0.88[CHB][hapmap]
rs12426509	0.82[CHB][hapmap]
rs12810240	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1362265	0.84[CEU][hapmap];0.88[CHB][hapmap];0.80[LWK][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1362266	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs1419965	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1476908	0.82[CHB][hapmap]
rs1544425	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs1548805	0.84[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs1548806	0.88[CHB][hapmap]
rs16928347	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16928381	0.88[CHB][hapmap]
rs16928383	0.88[CHB][hapmap]
rs16928393	0.88[CHB][hapmap]
rs17800876	0.80[CEU][hapmap];0.82[CHB][hapmap]
rs2051843	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2051844	0.80[CEU][hapmap];0.88[CHB][hapmap]
rs2052183	0.85[EUR][1000 genomes]
rs2052185	0.88[CHB][hapmap]
rs2158447	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2286037	0.82[CHB][hapmap]
rs34785135	0.82[EUR][1000 genomes]
rs34929071	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35579512	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41369952	0.84[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4444139	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4447228	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56057921	0.82[EUR][1000 genomes]
rs56126511	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56168743	0.82[EUR][1000 genomes]
rs56228728	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56742512	0.82[EUR][1000 genomes]
rs57125493	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57707051	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58639324	0.93[ASN][1000 genomes]
rs59141976	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60222319	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61009778	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61913071	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61913073	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61913075	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61913097	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61913099	0.93[ASN][1000 genomes]
rs61913111	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61913128	0.88[ASN][1000 genomes]
rs61913131	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61913133	0.81[EUR][1000 genomes]
rs6489273	0.81[EUR][1000 genomes]
rs6489276	0.82[EUR][1000 genomes]
rs6489277	0.92[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes]
rs6489282	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6489284	0.88[ASN][1000 genomes]
rs7136329	0.88[ASN][1000 genomes]
rs7300575	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7300981	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73026439	0.82[EUR][1000 genomes]
rs73038635	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73038647	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7306130	0.92[CEU][hapmap];0.84[CHB][hapmap];0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs7311231	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7313311	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7486336	0.86[EUR][1000 genomes]
rs766956	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.83[TSI][hapmap];0.93[ASN][1000 genomes]
rs768157	0.88[ASN][1000 genomes]
rs7954162	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7956588	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7956798	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7958662	0.92[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs7963546	0.87[ASN][1000 genomes]
rs7963602	0.89[EUR][1000 genomes]
rs7967934	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7968223	0.87[EUR][1000 genomes]
rs7968583	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[ASN][1000 genomes]
rs7968772	0.88[ASN][1000 genomes]
rs7969569	0.88[ASN][1000 genomes]
rs7971585	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7971670	0.82[CHB][hapmap]
rs7972088	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7973820	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7975854	0.96[CEU][hapmap];0.84[CHB][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7978540	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs7978898	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7980065	0.81[CHB][hapmap]
rs956408	0.84[CEU][hapmap];0.88[CHB][hapmap];0.82[EUR][1000 genomes]
rs9943818	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1036488	chr12:1041097-1445923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
16	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
17	nsv1039826	chr12:1259831-1483326	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv930996	chr12:1270113-1473328	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
24	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
25	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
26	nsv1039946	chr12:1429190-1548852	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
28	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
29	nsv556949	chr12:1437726-1514021	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7972290	NRIP2	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
2	chr12:1413800-1447600	Weak transcription	Gastric	stomach
3	chr12:1428000-1447600	Weak transcription	Ovary	ovary
4	chr12:1428200-1443200	Weak transcription	Fetal Brain Female	brain
5	chr12:1428200-1447600	Weak transcription	Left Ventricle	heart
6	chr12:1428200-1448800	Weak transcription	Psoas Muscle	Psoas
7	chr12:1428200-1449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:1428200-1449000	Weak transcription	Aorta	Aorta
9	chr12:1428200-1455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:1434600-1454800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:1434600-1473000	Weak transcription	Primary B cells from cord blood	blood
13	chr12:1434600-1476600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:1435600-1448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:1435600-1459600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:1435800-1443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:1437000-1448800	Weak transcription	Right Ventricle	heart
18	chr12:1438000-1449000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:1439400-1447600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:1439600-1457600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:1439800-1446600	Weak transcription	Fetal Intestine Large	intestine
23	chr12:1440000-1447200	Weak transcription	Fetal Intestine Small	intestine
24	chr12:1440000-1448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:1441000-1449000	Weak transcription	Spleen	Spleen
26	chr12:1441000-1455000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:1441000-1458200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:1441800-1447600	Weak transcription	K562	blood
30	chr12:1441800-1449000	Weak transcription	Esophagus	oesophagus
31	chr12:1442000-1447200	Weak transcription	HepG2	liver
32	chr12:1442000-1448800	Weak transcription	Fetal Heart	heart
33	chr12:1442000-1449000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:1442000-1459400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:1442200-1449000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:1442200-1455000	Weak transcription	Primary T cells from cord blood	blood
37	chr12:1442200-1458800	Weak transcription	NHEK	skin
38	chr12:1442400-1447600	Weak transcription	Pancreas	Pancrea
39	chr12:1442400-1459400	Weak transcription	Fetal Stomach	stomach
40	chr12:1442600-1459400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:1443000-1444200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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