Variant report

Variant	rs4876480
Chromosome Location	chr8:113671986-113671987
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10081489	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12334432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13261060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1549354	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17652171	0.88[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs1991136	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1991137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2113666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2161925	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2194598	0.88[ASN][1000 genomes]
rs231279	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs231281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs231286	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2355821	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2432737	0.89[JPT][hapmap]
rs2432738	0.89[JPT][hapmap]
rs2432739	0.89[JPT][hapmap]
rs2432742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs2511532	0.89[JPT][hapmap]
rs2511534	0.89[JPT][hapmap]
rs4567066	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs57897007	0.93[ASN][1000 genomes]
rs61291053	0.85[ASN][1000 genomes]
rs6999481	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7004983	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7005129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7013101	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678429	0.89[ASN][1000 genomes]
rs72678439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678441	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72678452	0.93[ASN][1000 genomes]
rs72678454	0.93[ASN][1000 genomes]
rs73700769	0.93[ASN][1000 genomes]
rs7817596	0.90[CHB][hapmap]
rs7817836	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7832050	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs889987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9297478	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9297480	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	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	nsv831427	chr8:113494319-113699264	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv891324	chr8:113647451-113732965	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	n/a
7	nsv891325	chr8:113655596-113681944	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113629200-113680600	Weak transcription	NHEK	skin
2	chr8:113636800-113680400	Weak transcription	HMEC	breast
3	chr8:113663400-113676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:113666400-113675800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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