Variant report

Variant	rs56248947
Chromosome Location	chr8:113749776-113749777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:113730328..113732083-chr8:113748434..113750301,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11787239	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11986076	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13248739	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13253012	0.83[EUR][1000 genomes]
rs13254460	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13255029	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13256271	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13256724	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13257842	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13258944	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13259298	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13261160	0.84[EUR][1000 genomes]
rs13261301	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13264919	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13266975	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13267779	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13275398	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13276278	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2216891	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231278	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231280	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231282	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231283	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231284	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs231287	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs231288	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231313	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs231314	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs231315	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231317	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231320	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231321	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs231322	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28830583	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs370168	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs373880	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7013313	0.85[EUR][1000 genomes];0.87[ASN][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	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv534270	chr8:113585830-113979075	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	esv2754315	chr8:113736824-114048824	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 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	chr8:113749200-113750400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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