Variant report

Variant	rs12990914
Chromosome Location	chr2:63793705-63793706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 182 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:181)

rs_ID	r²[population]
rs10168545	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10170988	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10171223	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10176522	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1023820	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10469944	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10469945	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1082363	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10865337	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865339	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10865341	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11125977	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11125978	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs112194	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11693047	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11693909	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11898615	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12105140	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12713494	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12713496	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1348803	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1348806	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1356390	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1374308	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446563	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446565	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1446569	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1550860	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs166384	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs166385	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs171901	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs171902	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs174485	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs185499	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1867847	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1867849	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs187801	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1900303	0.81[AMR][1000 genomes]
rs190519	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs196123	0.83[EUR][1000 genomes]
rs196124	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs196125	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2028883	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2028887	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2084200	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2121350	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2121351	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2121353	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2166494	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2166497	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2176415	0.86[EUR][1000 genomes]
rs2292793	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305157	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2422011	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2592386	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2592387	0.84[AMR][1000 genomes]
rs2592388	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2604613	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2604614	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2604615	0.81[AMR][1000 genomes]
rs2604617	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262470	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs262471	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262472	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs262473	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs262474	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262475	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262476	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262477	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262478	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262479	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262480	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262481	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262482	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262483	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262484	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262485	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262486	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262487	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262488	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262489	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262490	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262491	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs262492	0.83[EUR][1000 genomes]
rs262493	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs262494	0.84[EUR][1000 genomes]
rs262495	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs262501	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262502	0.92[EUR][1000 genomes]
rs262503	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262504	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262505	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262506	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262507	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs262508	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262509	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262510	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262511	0.83[AMR][1000 genomes]
rs262512	0.83[AMR][1000 genomes]
rs262513	0.83[AMR][1000 genomes]
rs262514	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262515	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs262516	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262517	0.83[AMR][1000 genomes]
rs262518	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262519	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262520	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262521	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262523	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262524	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262525	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262526	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262527	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262528	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262529	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262530	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262531	0.81[AMR][1000 genomes]
rs262532	0.81[AMR][1000 genomes]
rs262533	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262536	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262538	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262539	0.81[AMR][1000 genomes]
rs2901614	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3980466	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4255949	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4671064	0.83[EUR][1000 genomes]
rs4671065	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671066	0.86[EUR][1000 genomes]
rs4671067	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671068	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671069	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4671503	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4671505	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671508	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671509	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671512	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4671514	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671515	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671517	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671519	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6546004	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6546005	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6546007	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6546009	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6546011	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6546016	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546017	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546018	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6546019	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6706123	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6708804	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717031	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6724160	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6732791	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6734648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6736411	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6738190	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754730	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68183503	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7563623	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7570031	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7571017	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7571325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7576316	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7577952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7581630	0.87[EUR][1000 genomes]
rs7584404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7606045	0.94[EUR][1000 genomes]
rs7607257	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7608470	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7608513	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs959195	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs964880	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs964903	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9789351	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs989527	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12990914	WDPCP	cis	Adipose Subcutaneous	GTEx
rs12990914	MDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63777400-63806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63778800-63794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
4	chr2:63781000-63804000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:63783400-63798600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:63783600-63793800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:63787000-63793800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:63789000-63808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:63789000-63808200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:63789400-63794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:63789400-63796600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:63789600-63795800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:63790600-63803000	Weak transcription	Fetal Heart	heart
14	chr2:63791400-63794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:63791800-63798800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:63793200-63794000	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr2:63793200-63794400	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr2:63793200-63794800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:63793200-63796800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr2:63793400-63794000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr2:63793400-63795400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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