Variant report

Variant	rs2214590
Chromosome Location	chr7:11591239-11591240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10240343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10240511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10428944	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10486155	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12112423	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12112567	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12113763	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12699205	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12699206	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12699208	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12699223	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699224	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699225	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699233	0.87[EUR][1000 genomes]
rs13228651	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13238469	0.85[ASN][1000 genomes]
rs17164736	0.86[ASN][1000 genomes]
rs17164737	0.86[ASN][1000 genomes]
rs17164738	0.86[ASN][1000 genomes]
rs17164739	0.86[ASN][1000 genomes]
rs17164805	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2072139	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074605	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074606	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074607	0.88[ASN][1000 genomes]
rs2158260	0.82[ASN][1000 genomes]
rs2214591	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883564	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35025590	0.80[AMR][1000 genomes]
rs35833899	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4291151	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4443556	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4443557	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4504531	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4571634	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57445589	0.82[ASN][1000 genomes]
rs59758867	0.82[ASN][1000 genomes]
rs59956574	0.82[ASN][1000 genomes]
rs60572471	0.82[ASN][1000 genomes]
rs67541992	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6942629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946819	0.82[ASN][1000 genomes]
rs6958901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964073	0.82[ASN][1000 genomes]
rs6968824	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6975510	0.94[ASN][1000 genomes]
rs6980164	0.82[ASN][1000 genomes]
rs73286870	0.82[ASN][1000 genomes]
rs73286874	0.82[ASN][1000 genomes]
rs73286880	0.82[ASN][1000 genomes]
rs73286889	0.82[ASN][1000 genomes]
rs73286890	0.82[ASN][1000 genomes]
rs73286893	0.81[ASN][1000 genomes]
rs73288805	0.86[ASN][1000 genomes]
rs739754	0.82[ASN][1000 genomes]
rs739755	0.82[ASN][1000 genomes]
rs739758	0.81[ASN][1000 genomes]
rs757217	0.82[ASN][1000 genomes]
rs757218	0.82[ASN][1000 genomes]
rs7788442	0.84[ASN][1000 genomes]
rs7790988	0.82[ASN][1000 genomes]
rs7792687	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792827	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804875	0.82[ASN][1000 genomes]
rs7805116	0.87[ASN][1000 genomes]
rs7811211	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs916988	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1028614	chr7:11511684-11596934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv464366	chr7:11522525-11602899	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv606200	chr7:11522525-11602899	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1793156	chr7:11584813-11595992	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11570400-11592000	Weak transcription	Fetal Brain Male	brain
2	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
3	chr7:11582800-11595000	Weak transcription	Fetal Kidney	kidney
4	chr7:11582800-11598600	Weak transcription	Fetal Lung	lung
5	chr7:11586200-11592200	Weak transcription	Primary hematopoietic stem cells	blood

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