Variant report

Variant	rs10205090
Chromosome Location	chr2:190342788-190342789
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190338740..190340819-chr2:190341888..190343639,2	K562	blood:
2	chr2:190341307..190343721-chr2:190345345..190347093,2	MCF-7	breast:
3	chr2:190341305..190342866-chr2:190363155..190365858,2	K562	blood:
4	chr2:190341340..190343913-chr2:190441363..190443168,2	K562	blood:
5	chr2:190339500..190342823-chr2:190342952..190345500,4	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10166669	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10166763	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10168736	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10169952	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10171824	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10172337	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10174725	0.96[EUR][1000 genomes]
rs10174952	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10177339	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10177917	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178328	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178743	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178969	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10179002	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10179972	1.00[CEU][hapmap]
rs10181606	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10182531	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10185003	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10185694	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10186436	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10187336	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10187589	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187808	1.00[CEU][hapmap]
rs10187975	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10190096	0.96[EUR][1000 genomes]
rs10191409	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10191847	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10193669	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193984	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10194053	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194834	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10194934	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10196089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196323	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196675	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196977	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10200629	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10201372	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10201772	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201984	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10202436	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202723	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10202780	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202907	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10203516	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10203719	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10204110	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10205139	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205215	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10206086	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10207004	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10208826	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208917	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10209758	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10439312	1.00[CEU][hapmap]
rs10931412	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10931413	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12165153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328504	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12328515	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12328914	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13383723	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13386772	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387876	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13387877	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13388366	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13389403	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391984	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13392896	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13392978	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394718	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13396640	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13396910	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13396980	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400624	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13401179	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402923	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13405157	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407353	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13407452	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13407566	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13409317	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13413979	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13414763	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13419269	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13419984	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420832	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13423429	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13426353	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13427051	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427092	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13427686	0.88[EUR][1000 genomes]
rs13427692	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428976	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429203	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430496	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430575	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430587	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430671	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430879	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430915	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432036	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13432963	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28509172	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627748	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28760459	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711766	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6724634	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6724646	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725458	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725599	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728197	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737615	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740723	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740742	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740926	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746050	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6754272	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755665	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757134	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355598	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7558500	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7561643	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7562592	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7571181	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572416	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574439	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584984	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7586032	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592383	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597402	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597614	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606348	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609327	1.00[CEU][hapmap]
rs9288164	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9808058	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190306800-190344200	Weak transcription	Esophagus	oesophagus
2	chr2:190308200-190342800	Strong transcription	A549	lung
3	chr2:190313000-190342800	Strong transcription	HSMM	muscle
4	chr2:190315400-190347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:190333000-190347200	Weak transcription	Small Intestine	intestine
6	chr2:190333400-190344200	Weak transcription	Stomach Mucosa	stomach
7	chr2:190335000-190342800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:190335000-190343200	Weak transcription	Colonic Mucosa	Colon
9	chr2:190335000-190348600	Weak transcription	Pancreas	Pancrea
10	chr2:190335000-190348600	Weak transcription	Right Ventricle	heart
11	chr2:190335000-190348800	Weak transcription	Gastric	stomach
12	chr2:190335000-190351800	Weak transcription	Psoas Muscle	Psoas
13	chr2:190335000-190366200	Weak transcription	Ovary	ovary
14	chr2:190335800-190352600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:190336600-190349600	Weak transcription	HSMMtube	muscle
16	chr2:190338400-190348600	Weak transcription	Fetal Intestine Small	intestine
17	chr2:190338600-190346000	Weak transcription	Thymus	Thymus
18	chr2:190338600-190348600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:190338600-190349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:190339400-190343200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:190339400-190344200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:190339400-190349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:190339600-190342800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:190339600-190343000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:190339600-190344200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:190339600-190344400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:190339600-190348200	Weak transcription	Lung	lung
28	chr2:190339600-190348400	Weak transcription	Spleen	Spleen
29	chr2:190339600-190349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:190339600-190350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:190339600-190352600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:190339800-190342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:190340200-190343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:190340400-190343200	Weak transcription	HepG2	liver
35	chr2:190340600-190343000	Weak transcription	K562	blood
36	chr2:190340600-190343200	Weak transcription	Primary B cells from cord blood	blood
37	chr2:190340600-190343400	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:190340600-190348800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:190340800-190343200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:190340800-190352400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:190341000-190343200	Weak transcription	Fetal Brain Female	brain
42	chr2:190341000-190343400	Weak transcription	NHDF-Ad	bronchial
43	chr2:190341200-190342800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:190341200-190342800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:190341200-190342800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:190341200-190342800	Weak transcription	Fetal Brain Male	brain
47	chr2:190341200-190342800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:190341200-190343800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:190341200-190347000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr2:190341200-190347200	Weak transcription	Adipose Nuclei	Adipose

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