Variant report

Variant	rs11992507
Chromosome Location	chr8:62044830-62044831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62034871..62036799-chr8:62043503..62045064,2	K562	blood:
2	chr8:62044721..62047676-chr8:62048656..62051008,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16926906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16926938	1.00[EUR][1000 genomes]
rs1835758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56031720	1.00[EUR][1000 genomes]
rs59775198	1.00[EUR][1000 genomes]
rs60420622	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs735605	0.93[AMR][1000 genomes]
rs73685726	1.00[EUR][1000 genomes]
rs73685727	1.00[EUR][1000 genomes]
rs73685728	1.00[EUR][1000 genomes]
rs73685729	1.00[EUR][1000 genomes]
rs73685730	1.00[EUR][1000 genomes]
rs73685731	1.00[EUR][1000 genomes]
rs73685732	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685733	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685734	1.00[EUR][1000 genomes]
rs73685735	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685738	1.00[EUR][1000 genomes]
rs73685740	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73685742	1.00[EUR][1000 genomes]
rs73685743	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2761428	chr8:62035527-62045992	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	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	chr8:62034400-62051400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:62039000-62051400	Weak transcription	Pancreas	Pancrea
3	chr8:62043800-62045000	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:62044000-62045000	Enhancers	Primary B cells from cord blood	blood
5	chr8:62044600-62045000	Enhancers	GM12878-XiMat	blood

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