Variant report

Variant	rs13248932
Chromosome Location	chr8:58311929-58311930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13256707	0.93[ASN][1000 genomes]
rs13262104	0.88[ASN][1000 genomes]
rs13266601	0.88[ASN][1000 genomes]
rs13282450	0.99[ASN][1000 genomes]
rs34042655	0.99[ASN][1000 genomes]
rs35554965	0.87[ASN][1000 genomes]
rs36058830	0.88[ASN][1000 genomes]
rs4412357	0.84[ASN][1000 genomes]
rs62514773	0.88[ASN][1000 genomes]
rs62514774	0.99[ASN][1000 genomes]
rs62514775	0.99[ASN][1000 genomes]
rs6983405	0.88[ASN][1000 genomes]
rs954295	1.00[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	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58310200-58312200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr8:58310200-58312800	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:58310200-58313200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:58310800-58312000	Enhancers	NHEK	skin
5	chr8:58311200-58312000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:58311600-58312000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:58311800-58313200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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