Variant report

Variant	rs262474
Chromosome Location	chr2:63834619-63834620
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	chr2:63825929..63827816-chr2:63834281..63836054,2	MCF-7	breast:
2	chr2:63815242..63817655-chr2:63832171..63835443,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143951	Chromatin interaction
ENSG00000014641	Chromatin interaction

Extended variants
information (count: 174 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs10168545	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10170988	0.85[EUR][1000 genomes]
rs10171223	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10176522	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1023820	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10469944	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10469945	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1082363	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10865337	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10865338	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10865339	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10865341	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11125977	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11125978	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs112194	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11693909	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11898615	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12105140	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1255	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12713494	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12713496	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12990914	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1348803	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1348806	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1356390	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1374308	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446563	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1446564	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1446565	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1446569	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1550860	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs166384	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs166385	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs171901	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs171902	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs174485	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs185499	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1867847	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1867849	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs187801	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs190519	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs196123	0.81[EUR][1000 genomes]
rs196124	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs196125	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2028883	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2028887	0.89[EUR][1000 genomes]
rs2084200	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2121350	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2121351	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2121353	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2166494	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2166497	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2176415	0.82[EUR][1000 genomes]
rs2292793	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2305157	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2422011	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2592386	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2592388	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2604613	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2604614	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2604617	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262470	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs262471	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs262472	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262473	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs262475	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262476	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262477	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262478	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262479	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262480	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262481	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262482	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262483	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262484	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262485	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262486	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs262487	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262488	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262489	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs262490	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262491	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs262492	0.81[EUR][1000 genomes]
rs262493	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs262494	0.82[EUR][1000 genomes]
rs262495	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs262501	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262502	0.91[EUR][1000 genomes]
rs262503	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs262504	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs262505	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs262506	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs262507	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs262508	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262509	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262510	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262511	0.81[AMR][1000 genomes]
rs262512	0.81[AMR][1000 genomes]
rs262513	0.81[AMR][1000 genomes]
rs262514	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262515	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs262516	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262517	0.81[AMR][1000 genomes]
rs262518	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262519	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262520	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262521	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262523	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262524	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262525	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs262526	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262527	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262528	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262529	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262530	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262533	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262536	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs262538	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2901614	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3980466	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671065	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4671066	0.81[EUR][1000 genomes]
rs4671067	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671068	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4671069	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4671503	0.84[EUR][1000 genomes]
rs4671505	0.85[EUR][1000 genomes]
rs4671508	0.85[EUR][1000 genomes]
rs4671509	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4671512	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4671514	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4671515	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4671516	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671517	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4671519	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546004	0.84[EUR][1000 genomes]
rs6546005	0.84[EUR][1000 genomes]
rs6546007	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546009	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6546011	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6546016	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6546017	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546018	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6546019	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6706123	0.91[EUR][1000 genomes]
rs6708804	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6717031	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6724160	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6732791	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6734648	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6736029	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6736411	0.85[EUR][1000 genomes]
rs6738190	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6754730	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68183503	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7563623	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7570031	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7571017	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7571325	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7576316	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7577952	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7581630	0.82[EUR][1000 genomes]
rs7584404	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7606045	0.92[EUR][1000 genomes]
rs7607257	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7608470	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7608513	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs959195	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs964880	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs964903	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9789351	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs989527	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[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
rs262474	WDPCP	cis	Adipose Subcutaneous	GTEx
rs262474	MDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63818000-63834800	Strong transcription	Fetal Thymus	thymus
2	chr2:63818000-63835400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:63818600-63834800	Strong transcription	Primary T cells from cord blood	blood
4	chr2:63818600-63835800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:63819200-63835000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:63819400-63834800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:63819600-63834800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr2:63820200-63834800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:63820200-63834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:63820200-63835200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:63820400-63834800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:63820400-63835000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:63820400-63835000	Strong transcription	Liver	Liver
14	chr2:63820600-63834800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:63820600-63834800	Strong transcription	Placenta	Placenta
16	chr2:63820600-63835000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:63820800-63834800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:63820800-63835600	Strong transcription	Dnd41	blood
19	chr2:63821200-63834800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:63821400-63835000	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:63821400-63835200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:63821600-63843000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:63822000-63836000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:63823800-63834800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:63823800-63835800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr2:63824400-63835400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:63825400-63834800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:63825400-63835000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:63825800-63834800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:63826400-63836000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:63826800-63834800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:63826800-63835000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:63826800-63835400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:63826800-63835800	Strong transcription	Primary B cells from cord blood	blood
35	chr2:63827000-63834800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:63827000-63834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:63827000-63835400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:63827400-63834800	Strong transcription	HUVEC	blood vessel
39	chr2:63827600-63835000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:63828000-63834800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:63828200-63835200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:63828200-63835600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:63828200-63835800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:63828600-63834800	Strong transcription	Adipose Nuclei	Adipose
45	chr2:63829000-63834800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:63829200-63835600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:63829200-63839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:63829400-63835600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:63829800-63834800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:63830200-63834800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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