Variant report

Variant	rs61918736
Chromosome Location	chr12:1179949-1179950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10400515	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10505719	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10505720	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11831674	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11833070	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11834340	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11835502	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11836039	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11837382	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11837384	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12812586	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12812965	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12817140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817182	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12817372	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12817987	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822249	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12824693	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12827694	0.87[ASN][1000 genomes]
rs1344443	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1345238	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17694207	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17694270	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17755839	0.87[ASN][1000 genomes]
rs17755993	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17756029	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2369668	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34076252	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34186162	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34213826	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34527943	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34548540	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34860455	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34999895	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35092149	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35562585	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35580664	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35586095	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35619011	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35681937	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35738441	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35802047	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35821403	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36011250	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36054627	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59462516	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61917256	0.81[ASN][1000 genomes]
rs61917258	0.81[ASN][1000 genomes]
rs61917259	0.83[ASN][1000 genomes]
rs61918689	0.83[ASN][1000 genomes]
rs61918691	0.83[ASN][1000 genomes]
rs61918693	0.87[ASN][1000 genomes]
rs61918695	0.87[ASN][1000 genomes]
rs61918696	0.87[ASN][1000 genomes]
rs61918698	0.89[ASN][1000 genomes]
rs61918699	0.87[ASN][1000 genomes]
rs61918702	0.87[ASN][1000 genomes]
rs61918703	0.87[ASN][1000 genomes]
rs61918737	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61918740	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61918741	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61918742	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61918747	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61918748	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7132220	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298537	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7298929	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73035153	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314200	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73606388	0.87[ASN][1000 genomes]
rs7954090	0.86[ASN][1000 genomes]
rs7977736	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7980813	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 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	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	esv1794667	chr12:1174917-1199813	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv1796805	chr12:1174917-1199813	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1153400-1200400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:1163800-1200200	Weak transcription	Ovary	ovary
3	chr12:1169000-1183400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:1170000-1192600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:1173800-1180000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:1173800-1182400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:1173800-1192400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:1174000-1183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:1174000-1186000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:1174000-1186400	Weak transcription	Fetal Lung	lung
11	chr12:1174000-1190400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:1174000-1196200	Weak transcription	Primary B cells from cord blood	blood
13	chr12:1174200-1183400	Weak transcription	Fetal Stomach	stomach
14	chr12:1174200-1201600	Weak transcription	A549	lung
15	chr12:1175200-1192600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:1175200-1211600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:1176800-1192000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:1177000-1180000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:1178400-1184000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:1178400-1187200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:1178600-1186600	Weak transcription	NHDF-Ad	bronchial
22	chr12:1178800-1186400	Weak transcription	Fetal Heart	heart
23	chr12:1179400-1186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:1179400-1189800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:1179400-1193400	Weak transcription	HUVEC	blood vessel
26	chr12:1179600-1180200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:1179800-1189400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:1179800-1195000	Weak transcription	Lung	lung

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