Variant report

Variant	rs11994590
Chromosome Location	chr8:111817071-111817072
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	chr8:111815829..111818454-chr8:111818863..111820532,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10087692	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10088693	0.87[EUR][1000 genomes]
rs10100947	0.92[ASN][1000 genomes]
rs10105924	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10107334	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111631	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10111772	0.96[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10808439	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955547	0.88[ASN][1000 genomes]
rs11774323	0.88[ASN][1000 genomes]
rs11781088	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11990571	0.96[ASN][1000 genomes]
rs12548358	0.88[ASN][1000 genomes]
rs12681712	0.88[ASN][1000 genomes]
rs13258383	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13258611	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13261074	0.88[ASN][1000 genomes]
rs1352549	0.99[ASN][1000 genomes]
rs1387410	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1489356	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];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1489364	0.96[ASN][1000 genomes]
rs1489365	0.96[ASN][1000 genomes]
rs1489368	0.88[ASN][1000 genomes]
rs1489372	0.88[ASN][1000 genomes]
rs1602042	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16881248	0.88[ASN][1000 genomes]
rs1826046	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2087421	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2130187	0.86[ASN][1000 genomes]
rs2171707	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2351325	0.98[ASN][1000 genomes]
rs28452907	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28653273	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36055723	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4357259	0.96[ASN][1000 genomes]
rs4360267	0.92[ASN][1000 genomes]
rs4430061	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469430	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4510831	0.89[ASN][1000 genomes]
rs4529438	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4541876	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4573245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4613971	0.92[ASN][1000 genomes]
rs4735162	0.89[ASN][1000 genomes]
rs56122240	0.96[ASN][1000 genomes]
rs6469322	1.00[ASN][1000 genomes]
rs6469327	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6469330	0.87[EUR][1000 genomes]
rs6469331	0.87[EUR][1000 genomes]
rs6985111	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6991190	0.94[ASN][1000 genomes]
rs6991689	0.92[ASN][1000 genomes]
rs6993743	0.93[ASN][1000 genomes]
rs7010569	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015288	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7461078	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7839628	0.92[ASN][1000 genomes]
rs923429	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs923433	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs931410	0.87[EUR][1000 genomes]
rs958443	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027659	chr8:111585843-111875753	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831423	chr8:111672801-111869818	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891293	chr8:111704563-111822043	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	nsv1031245	chr8:111716585-111875753	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1032766	chr8:111779352-111995438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111788600-111826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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