Variant report

Variant	rs12320911
Chromosome Location	chr12:1458783-1458784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1005394	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1012719	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848458	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11061682	0.80[AMR][1000 genomes]
rs11061691	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11061698	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11061705	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11061707	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11061712	0.94[ASN][1000 genomes]
rs11061714	0.93[ASN][1000 genomes]
rs11061737	0.93[ASN][1000 genomes]
rs11837688	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298813	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12301879	0.93[ASN][1000 genomes]
rs12306160	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12306260	0.83[ASN][1000 genomes]
rs12308521	0.93[ASN][1000 genomes]
rs12423105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419965	0.94[ASN][1000 genomes]
rs16928347	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2051843	0.93[ASN][1000 genomes]
rs34929071	0.93[ASN][1000 genomes]
rs35579512	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57707051	0.93[ASN][1000 genomes]
rs58639324	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59141976	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913073	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61913097	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61913099	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61913128	0.93[ASN][1000 genomes]
rs6489282	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489284	0.93[ASN][1000 genomes]
rs7136329	0.93[ASN][1000 genomes]
rs7300575	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300981	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73038635	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73038647	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7311231	0.94[ASN][1000 genomes]
rs7313311	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs766956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768157	0.93[ASN][1000 genomes]
rs7954162	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954498	0.81[AFR][1000 genomes]
rs7955535	0.81[AFR][1000 genomes]
rs7956588	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956798	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963546	0.92[ASN][1000 genomes]
rs7963602	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7968223	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7968583	0.93[ASN][1000 genomes]
rs7968772	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969569	0.93[ASN][1000 genomes]
rs7972088	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7972290	0.93[ASN][1000 genomes]
rs7975854	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978540	0.93[ASN][1000 genomes]
rs7978898	0.94[ASN][1000 genomes]
rs9943854	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:1434600-1473000	Weak transcription	Primary B cells from cord blood	blood
3	chr12:1434600-1476600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:1435600-1459600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:1442000-1459400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:1442200-1458800	Weak transcription	NHEK	skin
9	chr12:1442400-1459400	Weak transcription	Fetal Stomach	stomach
10	chr12:1442600-1459400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:1442600-1480800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:1444200-1481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:1447800-1459000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:1448200-1459200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:1449400-1459000	Weak transcription	Psoas Muscle	Psoas
16	chr12:1449400-1459600	Weak transcription	Left Ventricle	heart
17	chr12:1449400-1460000	Weak transcription	Pancreas	Pancrea
18	chr12:1449800-1464600	Weak transcription	Right Ventricle	heart
19	chr12:1449800-1484400	Weak transcription	Esophagus	oesophagus
20	chr12:1450000-1459400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:1450000-1480400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:1450000-1484200	Weak transcription	Aorta	Aorta
23	chr12:1450000-1500000	Weak transcription	Spleen	Spleen
24	chr12:1452400-1459000	Weak transcription	NH-A	brain
25	chr12:1453600-1464200	Weak transcription	Adipose Nuclei	Adipose
26	chr12:1454000-1461000	Weak transcription	Fetal Lung	lung
27	chr12:1454200-1459000	Weak transcription	HMEC	breast
28	chr12:1454800-1459000	Weak transcription	Fetal Kidney	kidney
29	chr12:1455200-1459000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:1455200-1459200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:1455400-1458800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:1455400-1459000	Weak transcription	HSMMtube	muscle
33	chr12:1455400-1481200	Weak transcription	Brain Angular Gyrus	brain
34	chr12:1455600-1459800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:1455800-1458800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:1455800-1458800	Weak transcription	NHDF-Ad	bronchial
37	chr12:1455800-1459000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:1456000-1466400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:1456800-1460800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:1457000-1460200	Enhancers	Fetal Intestine Large	intestine
41	chr12:1457200-1461400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:1457400-1459200	Weak transcription	HepG2	liver
43	chr12:1457600-1460200	Enhancers	Liver	Liver
44	chr12:1457600-1460200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr12:1457600-1489000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:1457800-1459400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:1457800-1459400	Weak transcription	Right Atrium	heart
48	chr12:1457800-1460200	Enhancers	Colon Smooth Muscle	Colon
49	chr12:1457800-1461600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:1458000-1460200	Enhancers	Rectal Smooth Muscle	rectum

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