Variant report

Variant	rs2286031
Chromosome Location	chr12:1372114-1372115
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1365739..1368747-chr12:1369581..1372843,3	K562	blood:
2	chr12:1365739..1369161-chr12:1369581..1373916,5	K562	blood:

Variant related genes	Relation type
ENSG00000082805	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10161285	0.94[CHB][hapmap]
rs1017019	0.80[ASN][1000 genomes]
rs10848456	0.88[CHB][hapmap]
rs11061677	0.88[CHB][hapmap];0.93[CHD][hapmap];0.81[TSI][hapmap]
rs11061679	0.88[CHB][hapmap];0.86[CHD][hapmap];0.83[TSI][hapmap]
rs11061682	0.88[CHB][hapmap]
rs11061691	0.88[CHB][hapmap]
rs11061702	0.88[CHB][hapmap]
rs11061703	0.88[CHB][hapmap]
rs11061712	0.81[CEU][hapmap]
rs11061714	0.81[GIH][hapmap];0.80[TSI][hapmap]
rs11061737	0.81[CEU][hapmap];0.81[GIH][hapmap];0.80[TSI][hapmap]
rs11835033	0.80[ASN][1000 genomes]
rs12298813	0.81[MEX][hapmap]
rs12426509	0.94[CHB][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs1544425	0.94[CHB][hapmap];0.86[CHD][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs16928347	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs17223448	0.88[CHB][hapmap]
rs17800876	0.94[CHB][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap]
rs2189788	0.88[CHB][hapmap]
rs2286037	0.94[CHB][hapmap];0.81[CHD][hapmap]
rs58159804	0.80[ASN][1000 genomes]
rs6489270	0.88[CHB][hapmap]
rs6489276	0.80[ASN][1000 genomes]
rs6489277	0.88[CHB][hapmap];0.90[CHD][hapmap]
rs7137058	0.88[CHB][hapmap]
rs7300575	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs7303850	0.88[CHB][hapmap]
rs7306130	0.83[CHB][hapmap];0.93[CHD][hapmap];0.83[TSI][hapmap];0.80[ASN][1000 genomes]
rs7954213	0.88[CHB][hapmap]
rs7958662	0.88[CHB][hapmap]
rs7968583	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs7971670	0.94[CHB][hapmap];0.81[CHD][hapmap];0.81[TSI][hapmap]
rs7975854	0.83[CHB][hapmap];0.90[CHD][hapmap]
rs7976337	0.80[ASN][1000 genomes]
rs7978540	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs7978898	0.81[CEU][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap]
rs7980065	0.94[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.83[ASN][1000 genomes]
rs7980582	0.80[ASN][1000 genomes]
rs9943818	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:34 , 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	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv492321	chr12:1011692-1388512	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	nsv1037825	chr12:1045734-1432940	Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv541342	chr12:1045734-1432940	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv898582	chr12:1286841-1416592	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv1839295	chr12:1305357-1372114	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	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
30	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
31	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
32	esv1836738	chr12:1344141-1374396	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv1838583	chr12:1344141-1374396	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv1840059	chr12:1365662-1372114	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1327200-1391200	Weak transcription	Aorta	Aorta
2	chr12:1330200-1390600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:1330200-1391400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:1330400-1372200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:1330400-1373200	Weak transcription	Hela-S3	cervix
6	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:1341400-1373000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:1341800-1420000	Weak transcription	Esophagus	oesophagus
9	chr12:1343600-1378000	Weak transcription	Gastric	stomach
10	chr12:1343600-1381400	Weak transcription	Right Ventricle	heart
11	chr12:1343600-1390600	Weak transcription	NHLF	lung
12	chr12:1343600-1398800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:1343800-1377800	Weak transcription	A549	lung
14	chr12:1343800-1390800	Weak transcription	HSMMtube	muscle
15	chr12:1344800-1375000	Weak transcription	Fetal Thymus	thymus
16	chr12:1345000-1382800	Weak transcription	Spleen	Spleen
17	chr12:1346400-1375800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:1346800-1372200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:1347000-1372200	Weak transcription	Left Ventricle	heart
20	chr12:1347000-1375600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:1347000-1392000	Weak transcription	Psoas Muscle	Psoas
22	chr12:1347200-1374000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:1347200-1374600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:1348400-1389600	Weak transcription	NHDF-Ad	bronchial
25	chr12:1348600-1372800	Weak transcription	Fetal Intestine Large	intestine
26	chr12:1348800-1373000	Weak transcription	Fetal Stomach	stomach
27	chr12:1349000-1372200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:1355000-1372200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:1355000-1390600	Weak transcription	Osteobl	bone
30	chr12:1355400-1373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:1356200-1391200	Weak transcription	Fetal Kidney	kidney
32	chr12:1359400-1372200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:1359600-1374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:1359600-1378200	Weak transcription	Brain Anterior Caudate	brain
35	chr12:1359600-1378600	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:1359600-1391000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:1360000-1373600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:1360000-1374600	Weak transcription	Fetal Lung	lung
39	chr12:1360000-1384200	Weak transcription	Brain Angular Gyrus	brain
40	chr12:1360200-1372200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:1360200-1372400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:1360200-1373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:1360200-1396600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:1360400-1387400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:1360800-1373800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:1361200-1377600	Weak transcription	Thymus	Thymus
47	chr12:1361400-1374600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:1361800-1372200	Weak transcription	HSMM	muscle
49	chr12:1362000-1386800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:1363200-1374600	Weak transcription	Brain Inferior Temporal Lobe	brain

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