Variant report

Variant	rs12315865
Chromosome Location	chr12:1372835-1372836
allele	A/G
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: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10161285	0.82[ASN][1000 genomes]
rs1017019	0.84[ASN][1000 genomes]
rs10848452	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10848458	0.84[EUR][1000 genomes]
rs11061677	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061679	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061682	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11061691	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11061698	0.84[EUR][1000 genomes]
rs11061699	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11835033	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12302807	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12306160	0.84[EUR][1000 genomes]
rs12306260	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12426509	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1544425	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16928347	0.84[EUR][1000 genomes]
rs17800876	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2286037	0.89[ASN][1000 genomes]
rs28535515	0.86[EUR][1000 genomes]
rs56742512	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57027936	0.89[ASN][1000 genomes]
rs57125493	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58159804	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58545225	0.89[ASN][1000 genomes]
rs60222319	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60257878	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61009778	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61911966	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61911969	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61911972	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61911976	0.86[ASN][1000 genomes]
rs61911977	0.86[ASN][1000 genomes]
rs61911978	0.86[ASN][1000 genomes]
rs61911983	0.89[ASN][1000 genomes]
rs61911984	0.89[ASN][1000 genomes]
rs61912026	0.89[ASN][1000 genomes]
rs61913073	0.84[EUR][1000 genomes]
rs61913075	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6489273	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6489276	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6489277	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7300575	0.84[EUR][1000 genomes]
rs7300981	0.84[EUR][1000 genomes]
rs7306130	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7315544	0.81[ASN][1000 genomes]
rs7958662	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7963602	0.85[EUR][1000 genomes]
rs7967934	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7968223	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7971585	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971670	0.81[ASN][1000 genomes]
rs7972290	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7973820	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975854	0.84[EUR][1000 genomes]
rs7976337	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7980065	0.80[ASN][1000 genomes]
rs7980582	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9943818	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	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
29	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
30	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
31	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
32	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
33	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
34	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: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	chr12:1330400-1373200	Weak transcription	Hela-S3	cervix
5	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:1341400-1373000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:1341800-1420000	Weak transcription	Esophagus	oesophagus
8	chr12:1343600-1378000	Weak transcription	Gastric	stomach
9	chr12:1343600-1381400	Weak transcription	Right Ventricle	heart
10	chr12:1343600-1390600	Weak transcription	NHLF	lung
11	chr12:1343600-1398800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:1343800-1377800	Weak transcription	A549	lung
13	chr12:1343800-1390800	Weak transcription	HSMMtube	muscle
14	chr12:1344800-1375000	Weak transcription	Fetal Thymus	thymus
15	chr12:1345000-1382800	Weak transcription	Spleen	Spleen
16	chr12:1346400-1375800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:1347000-1375600	Weak transcription	Brain Germinal Matrix	brain
18	chr12:1347000-1392000	Weak transcription	Psoas Muscle	Psoas
19	chr12:1347200-1374000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:1347200-1374600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:1348400-1389600	Weak transcription	NHDF-Ad	bronchial
22	chr12:1348800-1373000	Weak transcription	Fetal Stomach	stomach
23	chr12:1355000-1390600	Weak transcription	Osteobl	bone
24	chr12:1355400-1373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:1356200-1391200	Weak transcription	Fetal Kidney	kidney
26	chr12:1359600-1374000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:1359600-1378200	Weak transcription	Brain Anterior Caudate	brain
28	chr12:1359600-1378600	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:1359600-1391000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:1360000-1373600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr12:1360000-1374600	Weak transcription	Fetal Lung	lung
32	chr12:1360000-1384200	Weak transcription	Brain Angular Gyrus	brain
33	chr12:1360200-1373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:1360200-1396600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:1360400-1387400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:1360800-1373800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:1361200-1377600	Weak transcription	Thymus	Thymus
38	chr12:1361400-1374600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:1362000-1386800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:1363200-1374600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:1363200-1386800	Weak transcription	HepG2	liver
42	chr12:1363600-1374800	Weak transcription	Dnd41	blood
43	chr12:1364800-1408600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:1366400-1376800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:1366400-1386400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:1366600-1373200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:1366600-1374600	Weak transcription	Ovary	ovary
48	chr12:1366600-1374800	Weak transcription	Pancreas	Pancrea
49	chr12:1366600-1392000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:1366600-1418000	Weak transcription	Lung	lung

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