Variant report

Variant	rs11994387
Chromosome Location	chr8:111686501-111686502
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	chr8:111681810..111684012-chr8:111686136..111688041,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10505147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505149	0.97[EUR][1000 genomes]
rs11784133	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991593	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11995224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997623	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248174	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250757	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254072	1.00[ASN][1000 genomes]
rs13254571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255968	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256480	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13272419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353209	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1494241	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587014	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16880946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16880947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16880951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881009	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881028	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17393840	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34235257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34267887	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34517324	0.95[EUR][1000 genomes]
rs34526441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34555166	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945017	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35157570	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35211908	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35238090	0.97[EUR][1000 genomes]
rs35477724	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35772751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57792399	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60679001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984552	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996014	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996577	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs720965	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73326105	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73328011	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838123	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846423	0.88[EUR][1000 genomes];1.00[ASN][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	nsv1024499	chr8:111190482-111691474	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539717	chr8:111190482-111691474	ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv611882	chr8:111342240-111722469	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1031119	chr8:111367939-111720763	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv831422	chr8:111578949-111755170	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	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
7	nsv1025390	chr8:111605571-111806020	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv539718	chr8:111605571-111806020	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111683600-111687400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:111684000-111687400	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:111684400-111687400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:111685400-111686600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:111685600-111686600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:111686000-111686600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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