Variant report

Variant	rs2901614
Chromosome Location	chr2:63782088-63782089
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63773135..63775476-chr2:63779665..63782644,2	K562	blood:

Extended variants
information (count: 171 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs10168545	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170988	0.88[EUR][1000 genomes]
rs10171223	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10176522	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1023820	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469944	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10469945	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1082363	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865337	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865338	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865339	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10865341	0.82[EUR][1000 genomes]
rs11125977	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125978	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs112194	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11693909	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898615	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12105140	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1255	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713494	0.88[EUR][1000 genomes]
rs12713496	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990914	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1348803	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1348806	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1356390	0.89[EUR][1000 genomes]
rs1374308	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1446563	0.87[EUR][1000 genomes]
rs1446564	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446565	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446569	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1550860	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166384	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs166385	0.86[EUR][1000 genomes]
rs171901	0.86[EUR][1000 genomes]
rs171902	0.86[EUR][1000 genomes]
rs174485	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs185499	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867847	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1867849	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs187801	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs190519	0.91[EUR][1000 genomes]
rs196123	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs196124	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs196125	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2028883	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028887	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084200	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2121350	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121351	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2121353	0.87[EUR][1000 genomes]
rs2166494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166497	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176415	0.83[EUR][1000 genomes]
rs2292793	0.87[EUR][1000 genomes]
rs2305157	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2422011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2592386	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2592388	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2604613	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2604614	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2604617	0.86[EUR][1000 genomes]
rs262470	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262471	0.90[EUR][1000 genomes]
rs262472	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262473	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262474	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs262475	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262476	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262477	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262478	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262479	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262480	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262481	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262482	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262483	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262484	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262485	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262486	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262487	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262488	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262489	0.89[EUR][1000 genomes]
rs262490	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262491	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262492	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262493	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262494	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262495	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262501	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262502	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262503	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262504	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262505	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262506	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262507	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs262508	0.87[EUR][1000 genomes]
rs262509	0.86[EUR][1000 genomes]
rs262510	0.87[EUR][1000 genomes]
rs262514	0.87[EUR][1000 genomes]
rs262515	0.84[EUR][1000 genomes]
rs262516	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262518	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262519	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262520	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262521	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262523	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262524	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262525	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262526	0.87[EUR][1000 genomes]
rs262527	0.87[EUR][1000 genomes]
rs262528	0.86[EUR][1000 genomes]
rs262529	0.86[EUR][1000 genomes]
rs262530	0.86[EUR][1000 genomes]
rs262533	0.86[EUR][1000 genomes]
rs262536	0.86[EUR][1000 genomes]
rs262538	0.86[EUR][1000 genomes]
rs3980466	0.88[EUR][1000 genomes]
rs4255949	0.82[EUR][1000 genomes]
rs4671064	0.80[EUR][1000 genomes]
rs4671065	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671066	0.86[EUR][1000 genomes]
rs4671067	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671068	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671069	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4671503	0.86[EUR][1000 genomes]
rs4671505	0.88[EUR][1000 genomes]
rs4671508	0.88[EUR][1000 genomes]
rs4671509	0.88[EUR][1000 genomes]
rs4671512	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4671514	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4671515	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671516	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671517	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4671519	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546004	0.86[EUR][1000 genomes]
rs6546005	0.86[EUR][1000 genomes]
rs6546007	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6546009	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6546011	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6546016	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546017	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546018	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546019	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6706123	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708804	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724160	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732791	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734648	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6736029	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736411	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6738190	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754730	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68183503	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7563623	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570031	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571017	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571325	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576316	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577952	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581630	0.84[EUR][1000 genomes]
rs7584404	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606045	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7607257	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608470	0.88[EUR][1000 genomes]
rs7608513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs959195	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964880	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs964903	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9789351	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989527	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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
rs2901614	WDPCP	cis	Adipose Subcutaneous	GTEx
rs2901614	MDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63772800-63788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:63773200-63783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:63777400-63806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:63777600-63782600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:63777600-63783600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:63777600-63784400	Weak transcription	Gastric	stomach
7	chr2:63778800-63794000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:63780200-63783400	Weak transcription	Primary B cells from cord blood	blood
9	chr2:63780200-63786000	Weak transcription	Fetal Lung	lung
10	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
11	chr2:63780400-63785800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:63780600-63782200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:63780600-63782200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:63780600-63784200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:63780600-63785800	Weak transcription	Adipose Nuclei	Adipose
16	chr2:63780800-63784000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:63780800-63785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:63780800-63791800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:63780800-63792200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:63781000-63783400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:63781000-63783400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:63781000-63793200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:63781000-63804000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:63781200-63782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:63781200-63782800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:63781200-63790000	Weak transcription	Right Ventricle	heart
27	chr2:63781400-63782800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:63781400-63783600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:63781400-63783600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:63781600-63785600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:63781600-63786600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:63781800-63784600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:63781800-63787000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:63782000-63782200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr2:63782000-63782600	Strong transcription	Lung	lung
36	chr2:63782000-63782800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:63782000-63783000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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