Variant report

Variant	rs715003
Chromosome Location	chr8:125753172-125753173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12114306	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899968	0.83[AMR][1000 genomes]
rs60184954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv891435	chr8:125747374-125764361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517427	chr8:125749707-125766271	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125749000-125753400	Weak transcription	K562	blood
2	chr8:125750600-125753600	Enhancers	Liver	Liver
3	chr8:125752000-125753400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:125752400-125753800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:125752400-125753800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:125752400-125754000	Weak transcription	HepG2	liver
7	chr8:125752600-125753400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:125752800-125753200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:125752800-125756200	Enhancers	Fetal Intestine Small	intestine
10	chr8:125753000-125753200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:125753000-125754200	Enhancers	Fetal Stomach	stomach
12	chr8:125753000-125755600	Enhancers	Stomach Mucosa	stomach

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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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