Variant report

Variant	rs2264873
Chromosome Location	chr8:11385207-11385208
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11997711	1.00[EUR][1000 genomes]
rs1478902	1.00[AMR][1000 genomes]
rs1600251	1.00[AMR][1000 genomes]
rs17153216	1.00[AMR][1000 genomes]
rs2169890	1.00[EUR][1000 genomes]
rs2169891	1.00[AMR][1000 genomes]
rs2244909	1.00[AMR][1000 genomes]
rs2245030	1.00[EUR][1000 genomes]
rs2245126	1.00[EUR][1000 genomes]
rs2245337	1.00[EUR][1000 genomes]
rs2245454	1.00[EUR][1000 genomes]
rs2248791	1.00[EUR][1000 genomes]
rs2249275	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2252382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252386	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2255104	1.00[AMR][1000 genomes]
rs2264304	1.00[AFR][1000 genomes]
rs2264305	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264867	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264868	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264869	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264870	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2264871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2264872	1.00[EUR][1000 genomes]
rs2264908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2448071	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2467521	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2467522	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2618438	1.00[AMR][1000 genomes]
rs2618439	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2618440	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2618442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2618447	1.00[AMR][1000 genomes]
rs2618462	1.00[AMR][1000 genomes]
rs2618468	1.00[AMR][1000 genomes]
rs2729936	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2729937	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2736333	1.00[AMR][1000 genomes]
rs2736334	1.00[AMR][1000 genomes]
rs2736365	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4841555	1.00[AMR][1000 genomes]
rs57139007	1.00[AMR][1000 genomes]
rs58750942	1.00[AMR][1000 genomes]
rs61142806	1.00[AMR][1000 genomes]
rs899369	1.00[AMR][1000 genomes]
rs931083	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs931084	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs931085	1.00[AMR][1000 genomes]
rs931086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936547	1.00[AMR][1000 genomes]
rs969985	1.00[AMR][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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2762726	chr8:11384556-11386055	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11372200-11386000	Weak transcription	Spleen	Spleen
2	chr8:11380800-11385400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr8:11382800-11386200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:11383000-11407000	Weak transcription	Dnd41	blood
5	chr8:11383400-11386000	Weak transcription	Fetal Thymus	thymus
6	chr8:11384400-11385400	Genic enhancers	Primary B cells from cord blood	blood
7	chr8:11384400-11385600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:11384400-11388000	ZNF genes & repeats	GM12878-XiMat	blood
9	chr8:11384600-11385600	Enhancers	NHEK	skin
10	chr8:11385000-11385400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:11385000-11385400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:11385000-11385400	Enhancers	HMEC	breast

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