Variant report

Variant	rs12322500
Chromosome Location	chr12:1211334-1211335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10773924	0.85[ASN][1000 genomes]
rs10773925	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10773931	0.85[CHD][hapmap]
rs10848437	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10848439	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061631	0.85[CHB][hapmap];0.94[CHD][hapmap];0.87[ASN][1000 genomes]
rs11061638	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061640	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12297076	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12315092	0.90[CEU][hapmap]
rs12316126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316348	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12319882	0.90[CEU][hapmap]
rs12321620	0.89[CEU][hapmap]
rs12423086	0.90[GIH][hapmap]
rs12425157	0.90[GIH][hapmap]
rs1548580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2369669	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2369703	0.90[GIH][hapmap]
rs2906113	0.90[GIH][hapmap]
rs2968879	0.90[GIH][hapmap]
rs2968887	0.90[GIH][hapmap]
rs2968894	0.90[GIH][hapmap]
rs4372511	0.85[CHD][hapmap]
rs4554955	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs4766068	0.81[CEU][hapmap]
rs61912134	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61912135	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61912159	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61914260	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6489258	0.94[CEU][hapmap]
rs7131703	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7133720	0.95[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs721859	0.90[GIH][hapmap]
rs7298448	1.00[CEU][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304488	0.89[CEU][hapmap]
rs7304778	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310001	0.86[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7310914	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7312779	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7486327	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7954124	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954247	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7967813	0.90[CEU][hapmap]
rs7969079	0.90[CEU][hapmap]
rs7973151	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973282	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7973392	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9988961	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	nsv868854	chr12:1045935-1354083	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	nsv1041799	chr12:1091294-1304839	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
24	nsv541343	chr12:1091294-1304839	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
25	nsv468963	chr12:1106783-1220688	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv556943	chr12:1106783-1220688	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	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
28	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
29	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
30	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
31	esv1815943	chr12:1193024-1232377	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1175200-1211600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:1183800-1232000	Weak transcription	Pancreas	Pancrea
3	chr12:1187600-1212200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:1188000-1212400	Weak transcription	Esophagus	oesophagus
5	chr12:1192000-1220800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:1192600-1238400	Weak transcription	Gastric	stomach
7	chr12:1192800-1280800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:1193000-1224800	Weak transcription	Adipose Nuclei	Adipose
9	chr12:1193400-1213000	Weak transcription	Primary T cells from cord blood	blood
10	chr12:1200800-1212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:1200800-1238600	Weak transcription	Fetal Lung	lung
12	chr12:1201000-1214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:1201000-1220400	Weak transcription	NHDF-Ad	bronchial
14	chr12:1201000-1241000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:1201800-1219200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:1202200-1212400	Weak transcription	Brain Substantia Nigra	brain
17	chr12:1202400-1223600	Weak transcription	Osteobl	bone
18	chr12:1202600-1215000	Weak transcription	Liver	Liver
19	chr12:1204000-1214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:1204200-1211600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:1204400-1211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:1205800-1212400	Weak transcription	Ovary	ovary
23	chr12:1206800-1260600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:1207200-1212400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:1207200-1212800	Weak transcription	Left Ventricle	heart
26	chr12:1208000-1212800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:1208200-1211400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:1208200-1212400	Weak transcription	Right Ventricle	heart
29	chr12:1208400-1221200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:1208600-1212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:1208600-1220000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:1208600-1224800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:1208800-1212600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:1208800-1219400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:1208800-1220200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr12:1209000-1220200	Weak transcription	Fetal Intestine Large	intestine
37	chr12:1209000-1238600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:1209400-1211400	Enhancers	Fetal Heart	heart
39	chr12:1209600-1212800	Weak transcription	GM12878-XiMat	blood
40	chr12:1209600-1216800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:1209600-1221400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:1209800-1213000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:1209800-1225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:1209800-1227400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:1209800-1261600	Weak transcription	Aorta	Aorta
46	chr12:1210000-1212400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:1210000-1218800	Weak transcription	NHEK	skin
48	chr12:1210000-1220000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:1210000-1221400	Weak transcription	NHLF	lung
50	chr12:1210200-1212800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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