Variant report

Variant	rs11691494
Chromosome Location	chr2:98419726-98419727
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10432626	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11678558	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11678591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11679828	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11680018	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11680321	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680883	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11681535	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686881	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs11687510	0.87[CEU][hapmap]
rs11688829	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11690687	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11690737	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11692010	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692470	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11692671	0.83[EUR][1000 genomes]
rs12052222	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052836	0.82[ASN][1000 genomes]
rs12052846	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12104810	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12988571	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12995673	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13004090	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13006932	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13008968	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13020776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13023980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13028954	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032265	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032883	0.81[EUR][1000 genomes]
rs13033383	0.91[CEU][hapmap]
rs13034929	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1470483	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17488834	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs17488897	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17489287	0.82[CEU][hapmap]
rs17489454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489984	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17490429	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1838797	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1875699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2044459	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2084176	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2278700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305143	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3192177	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34149969	0.88[EUR][1000 genomes]
rs34373359	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34502870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34528940	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34654057	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34974566	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35098301	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35218942	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35255677	0.81[EUR][1000 genomes]
rs35424768	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505530	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783535	0.81[EUR][1000 genomes]
rs4311104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851462	0.83[EUR][1000 genomes]
rs55776387	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55886305	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57681139	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58546246	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62156511	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6710088	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6711101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738389	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6746768	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748124	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6757357	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71412824	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71429376	0.83[AFR][1000 genomes]
rs717417	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7421146	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7564773	0.83[ASN][1000 genomes]
rs7583868	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7601898	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895438	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs953320	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv819283	chr2:98418819-98421568	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
8	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:98402600-98422600	Strong transcription	Liver	Liver
16	chr2:98403200-98422400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:98403600-98422600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
19	chr2:98406200-98427200	Weak transcription	K562	blood
20	chr2:98406400-98469200	Weak transcription	A549	lung
21	chr2:98407400-98422000	Strong transcription	Adipose Nuclei	Adipose
22	chr2:98407400-98422200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr2:98407800-98422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:98409200-98423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:98409400-98423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:98409400-98423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:98409400-98423600	Weak transcription	Psoas Muscle	Psoas
29	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
30	chr2:98409600-98419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:98409800-98425000	Weak transcription	Fetal Brain Female	brain
33	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
34	chr2:98410000-98423400	Weak transcription	Right Ventricle	heart
35	chr2:98410000-98424800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:98410000-98424800	Weak transcription	Esophagus	oesophagus
37	chr2:98410000-98425200	Weak transcription	Gastric	stomach
38	chr2:98410000-98425400	Weak transcription	Pancreas	Pancrea
39	chr2:98410000-98425800	Weak transcription	NH-A	brain
40	chr2:98410000-98427000	Weak transcription	Brain Angular Gyrus	brain
41	chr2:98410000-98427200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:98410000-98427200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:98410000-98427400	Weak transcription	HSMMtube	muscle
44	chr2:98410000-98427800	Weak transcription	Spleen	Spleen
45	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
47	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
48	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine

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