Variant report

Variant	rs4663698
Chromosome Location	chr2:234460388-234460389
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10168794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10169180	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10177112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178062	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10178357	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10183033	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10185923	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10193542	1.00[JPT][hapmap]
rs10198879	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10207915	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10208361	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1037451	1.00[CEU][hapmap];1.00[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]
rs10803653	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs10929195	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10929200	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1097929	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1097930	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs1097931	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11690686	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11892545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1220430	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12467878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473743	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12473824	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12615446	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12692193	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12692195	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13002253	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13018364	0.99[EUR][1000 genomes]
rs13384932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13400563	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1377459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1377461	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453321	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1470864	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs1470865	0.81[LWK][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1542325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542326	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545524	0.80[EUR][1000 genomes]
rs1545525	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1597940	1.00[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1901812	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034675	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124045	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2167884	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2167885	1.00[CEU][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602387	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602389	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2603545	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2603546	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2603547	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2924809	1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2924811	0.89[EUR][1000 genomes]
rs2924813	0.88[EUR][1000 genomes]
rs2971861	0.91[EUR][1000 genomes]
rs2971862	0.92[EUR][1000 genomes]
rs2971863	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs2971864	0.93[EUR][1000 genomes]
rs2971865	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs2971866	0.91[EUR][1000 genomes]
rs2971867	0.93[EUR][1000 genomes]
rs2971869	0.86[EUR][1000 genomes]
rs2971870	0.89[EUR][1000 genomes]
rs2971871	0.89[EUR][1000 genomes]
rs2971872	0.89[EUR][1000 genomes]
rs4047187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4047188	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4047198	1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4047199	1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233627	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4663684	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55679565	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59160392	0.87[EUR][1000 genomes]
rs6710645	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6710772	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6716988	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726184	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753062	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6756068	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7422734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7557849	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7567713	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7571288	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7572310	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7575694	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7578898	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7599285	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7603410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7604337	0.87[EUR][1000 genomes]
rs7724	0.91[EUR][1000 genomes]
rs838543	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs838544	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs838545	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838548	1.00[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs838549	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs838550	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs838551	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs838552	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs838555	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs838557	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs838558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs838559	0.93[EUR][1000 genomes]
rs838561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs860794	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs896833	0.89[AMR][1000 genomes];0.97[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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
3	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
4	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
5	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234427400-234463800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
15	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
16	chr2:234433000-234462600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:234434600-234466200	Weak transcription	Right Ventricle	heart
18	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:234440800-234465600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:234441200-234460400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:234441600-234465800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:234441600-234466200	Weak transcription	Esophagus	oesophagus
23	chr2:234441600-234474800	Weak transcription	Gastric	stomach
24	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:234442600-234465600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:234443400-234466000	Weak transcription	Fetal Brain Female	brain
27	chr2:234447400-234464400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:234447800-234463800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:234449400-234465200	Weak transcription	Dnd41	blood
31	chr2:234450200-234465400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:234451800-234462200	Weak transcription	NHLF	lung
34	chr2:234452600-234463200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:234453000-234466000	Strong transcription	Placenta	Placenta
36	chr2:234453200-234461600	Weak transcription	HUVEC	blood vessel
37	chr2:234453200-234463200	Strong transcription	NHDF-Ad	bronchial
38	chr2:234453200-234474400	Weak transcription	Small Intestine	intestine
39	chr2:234453400-234464200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:234453600-234465400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:234453600-234465400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:234453600-234474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:234453800-234465800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:234454800-234461200	Weak transcription	Brain Substantia Nigra	brain
45	chr2:234454800-234466200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:234455200-234466200	Weak transcription	Lung	lung
47	chr2:234455400-234468400	Weak transcription	Fetal Intestine Small	intestine
48	chr2:234455400-234474400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:234455600-234461200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:234455800-234461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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