Variant report

Variant	rs61912037
Chromosome Location	chr12:1397079-1397080
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10491955	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061704	0.82[EUR][1000 genomes]
rs11061711	0.81[EUR][1000 genomes]
rs11608884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611107	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614113	0.87[EUR][1000 genomes]
rs11615715	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615950	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830570	0.87[EUR][1000 genomes]
rs11831980	0.82[EUR][1000 genomes]
rs11836372	0.85[EUR][1000 genomes]
rs12296944	0.80[EUR][1000 genomes]
rs12305871	0.81[EUR][1000 genomes]
rs12307141	0.82[EUR][1000 genomes]
rs12314845	0.81[EUR][1000 genomes]
rs12317763	0.87[EUR][1000 genomes]
rs12422548	0.81[EUR][1000 genomes]
rs12423086	0.90[ASN][1000 genomes]
rs12425157	0.85[ASN][1000 genomes]
rs12425793	0.90[ASN][1000 genomes]
rs12426549	0.85[ASN][1000 genomes]
rs12810240	0.82[EUR][1000 genomes]
rs2052183	0.81[EUR][1000 genomes]
rs2158447	0.81[EUR][1000 genomes]
rs2369703	0.90[ASN][1000 genomes]
rs28535515	0.90[EUR][1000 genomes]
rs41369952	0.81[EUR][1000 genomes]
rs4444139	0.86[EUR][1000 genomes]
rs4447228	0.81[EUR][1000 genomes]
rs56073926	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56126511	0.81[EUR][1000 genomes]
rs57855029	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61911968	0.90[ASN][1000 genomes]
rs61911970	0.90[ASN][1000 genomes]
rs61911971	0.90[ASN][1000 genomes]
rs61911973	0.90[ASN][1000 genomes]
rs61911974	0.90[ASN][1000 genomes]
rs61911979	0.90[ASN][1000 genomes]
rs61912028	0.85[ASN][1000 genomes]
rs61912031	0.85[ASN][1000 genomes]
rs61912033	0.90[ASN][1000 genomes]
rs61912035	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913071	0.87[EUR][1000 genomes]
rs61913111	0.80[EUR][1000 genomes]
rs73025628	0.90[ASN][1000 genomes]
rs73029108	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73031205	0.81[EUR][1000 genomes]
rs7486336	0.82[EUR][1000 genomes]
rs7952832	0.80[ASN][1000 genomes]
rs7962697	0.84[EUR][1000 genomes]
rs7973924	0.80[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	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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1341800-1420000	Weak transcription	Esophagus	oesophagus
3	chr12:1343600-1398800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:1364800-1408600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:1366600-1418000	Weak transcription	Lung	lung
6	chr12:1369400-1427600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:1372800-1399200	Weak transcription	Placenta	Placenta
8	chr12:1373400-1399600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:1373600-1398800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:1373600-1399000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:1373600-1402600	Weak transcription	Hela-S3	cervix
12	chr12:1373800-1410400	Weak transcription	Fetal Intestine Small	intestine
13	chr12:1374200-1404200	Weak transcription	Left Ventricle	heart
14	chr12:1374200-1423200	Weak transcription	NHEK	skin
15	chr12:1374400-1398800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:1374400-1399600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:1375000-1398800	Weak transcription	Liver	Liver
18	chr12:1375000-1399600	Weak transcription	HMEC	breast
19	chr12:1375200-1399600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:1375200-1419800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:1375400-1399000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:1375400-1400000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:1375400-1404200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:1376600-1399000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:1376800-1399000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:1379200-1398800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:1385000-1398600	Weak transcription	Primary B cells from cord blood	blood
28	chr12:1385400-1399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:1387400-1399000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
31	chr12:1387600-1404600	Weak transcription	Fetal Heart	heart
32	chr12:1387600-1441400	Weak transcription	HepG2	liver
33	chr12:1388400-1398800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:1388400-1399000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:1391200-1398600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:1391200-1434000	Weak transcription	A549	lung
37	chr12:1391400-1398800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:1391600-1398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:1391600-1399400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:1391600-1406000	Weak transcription	Osteobl	bone
41	chr12:1391600-1427800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:1391800-1421600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:1392200-1409600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:1392200-1413200	Weak transcription	K562	blood
45	chr12:1392400-1398800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:1392400-1398800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:1392400-1398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:1392400-1399000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:1392400-1399200	Weak transcription	HSMM	muscle
50	chr12:1392400-1404000	Weak transcription	Brain Anterior Caudate	brain

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