Variant report

Variant	rs262514
Chromosome Location	chr2:63890920-63890921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10168545	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10171223	0.80[EUR][1000 genomes]
rs10176522	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1023820	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10469944	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10469945	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1082363	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10865337	0.84[EUR][1000 genomes]
rs10865338	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10865339	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11125977	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11125978	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs112194	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11693909	0.84[EUR][1000 genomes]
rs11898615	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12105140	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12476592	0.83[AFR][1000 genomes]
rs1255	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713496	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12990914	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1348803	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348805	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1348806	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374308	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446563	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446564	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1446565	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1446569	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1550860	0.86[EUR][1000 genomes]
rs166384	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs166385	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171901	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs171902	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174485	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs185499	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867847	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1867849	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs187801	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1900303	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190519	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs196123	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs196124	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs196125	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2028883	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2028887	0.83[EUR][1000 genomes]
rs2084200	0.82[EUR][1000 genomes]
rs2121350	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2121351	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2121353	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166494	0.85[EUR][1000 genomes]
rs2166497	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2305157	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2422011	0.86[EUR][1000 genomes]
rs2592386	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592387	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592388	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604613	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2604614	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604615	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2604617	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262470	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262471	0.84[EUR][1000 genomes]
rs262472	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262473	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262474	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262475	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262476	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262477	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262478	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262479	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs262480	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262481	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262482	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262483	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262484	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262485	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262486	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs262487	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262488	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262489	0.83[EUR][1000 genomes]
rs262490	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262491	0.90[ASN][1000 genomes]
rs262492	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs262493	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262494	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs262495	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262501	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262502	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262503	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262504	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262505	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262506	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262507	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262508	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262509	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262510	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262511	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262512	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262513	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262515	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262516	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262517	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262518	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262519	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262520	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262521	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262523	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs262525	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262526	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262527	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262528	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262529	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262530	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262531	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262532	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262533	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262534	1.00[ASN][1000 genomes]
rs262535	1.00[ASN][1000 genomes]
rs262536	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262537	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262538	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262539	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2901614	0.87[EUR][1000 genomes]
rs4671065	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4671067	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4671068	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671069	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4671512	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4671514	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4671515	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671516	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671517	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4671519	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6546007	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546009	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546011	0.81[AMR][1000 genomes]
rs6546016	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6546017	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6546018	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6546019	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706123	0.85[EUR][1000 genomes]
rs6708804	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6717031	0.86[EUR][1000 genomes]
rs6724160	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6732791	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6734648	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6736029	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6738190	0.84[EUR][1000 genomes]
rs6754730	0.81[EUR][1000 genomes]
rs68183503	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7563623	0.85[EUR][1000 genomes]
rs7570031	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7571017	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7571325	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7576316	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7577952	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7584404	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7606045	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7607257	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7608513	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs959195	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs964880	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs964903	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9789351	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs989527	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv1792289	chr2:63812148-63900292	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs262514	MDH1	cis	Adipose Subcutaneous	GTEx
rs262514	WDPCP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63883600-63900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:63885800-63891000	Enhancers	NHDF-Ad	bronchial
3	chr2:63887800-63893000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:63888600-63893600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:63888800-63892400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:63888800-63893000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:63889000-63892200	Weak transcription	NHLF	lung
8	chr2:63889000-63892800	Weak transcription	NHEK	skin
9	chr2:63889200-63893400	Weak transcription	HMEC	breast
10	chr2:63889800-63891000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:63889800-63891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:63890000-63892800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:63890000-63893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:63890200-63891000	Enhancers	Adipose Nuclei	Adipose
15	chr2:63890200-63891400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:63890400-63892200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:63890400-63892800	Weak transcription	NH-A	brain
18	chr2:63890600-63891400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:63890600-63891800	Enhancers	Liver	Liver
20	chr2:63890600-63893800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:63890800-63891400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:63890800-63891400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:63890800-63892200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:63890800-63892400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:63890800-63892400	Weak transcription	Osteobl	bone
26	chr2:63890800-63893400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:63890800-63893400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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