Variant report

Variant	rs7818682
Chromosome Location	chr8:127879496-127879497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127872138..127873999-chr8:127878961..127881315,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10046732	0.83[EUR][1000 genomes]
rs10102061	0.83[EUR][1000 genomes]
rs10102079	0.83[EUR][1000 genomes]
rs10106550	0.84[ASN][1000 genomes]
rs10156279	0.88[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs10505487	0.82[ASN][1000 genomes]
rs10505489	0.83[ASN][1000 genomes]
rs10505493	0.83[EUR][1000 genomes]
rs10808552	0.85[EUR][1000 genomes]
rs10956331	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10956332	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10956333	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956334	0.82[EUR][1000 genomes]
rs10956337	0.83[EUR][1000 genomes]
rs10956339	0.83[EUR][1000 genomes]
rs11779539	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11985141	0.83[EUR][1000 genomes]
rs11986860	0.85[ASN][1000 genomes]
rs11987858	0.88[ASN][1000 genomes]
rs11988555	0.83[EUR][1000 genomes]
rs11989801	0.85[ASN][1000 genomes]
rs11992578	0.85[ASN][1000 genomes]
rs12334411	0.83[EUR][1000 genomes]
rs12334639	0.83[EUR][1000 genomes]
rs12335215	0.83[EUR][1000 genomes]
rs12545906	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs13254736	0.97[ASN][1000 genomes]
rs1400462	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1400463	0.81[EUR][1000 genomes]
rs1467191	0.83[EUR][1000 genomes]
rs1467192	0.83[EUR][1000 genomes]
rs1467193	0.83[EUR][1000 genomes]
rs16901776	0.88[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs16901778	0.83[ASN][1000 genomes]
rs16901783	0.86[ASN][1000 genomes]
rs16901785	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs16901792	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1972123	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1973699	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28409662	0.85[ASN][1000 genomes]
rs28617317	0.83[ASN][1000 genomes]
rs2893579	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4870987	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4870989	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4870990	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4871743	0.82[CEU][hapmap]
rs4871745	0.83[EUR][1000 genomes]
rs4871746	0.83[EUR][1000 genomes]
rs4871747	0.83[EUR][1000 genomes]
rs6985700	0.83[EUR][1000 genomes]
rs6985873	0.83[EUR][1000 genomes]
rs6986096	0.83[EUR][1000 genomes]
rs6989445	0.81[EUR][1000 genomes]
rs6993010	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6997140	0.83[EUR][1000 genomes]
rs6998093	0.85[ASN][1000 genomes]
rs7816751	0.85[ASN][1000 genomes]
rs7818898	0.85[EUR][1000 genomes]
rs7818978	0.85[EUR][1000 genomes]
rs7819108	0.84[EUR][1000 genomes]
rs7819209	0.83[EUR][1000 genomes]
rs7825034	1.00[CEU][hapmap];0.82[GIH][hapmap];0.92[TSI][hapmap];0.90[EUR][1000 genomes]
rs7827017	0.83[EUR][1000 genomes]
rs7827311	0.81[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap]
rs7828801	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833497	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7839993	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs975788	0.81[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap]
rs979963	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979964	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979965	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs979966	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9987223	0.80[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831456	chr8:127861583-128025508	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7818682	FAM49B	cis	parietal	SCAN
rs7818682	POU5F1B	cis	cerebellum	SCAN
rs7818682	IL22RA1	trans	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127870600-127880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:127876400-127880400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:127876400-127881200	Weak transcription	NHEK	skin
4	chr8:127876600-127886400	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:127878000-127885800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:127878600-127889000	Weak transcription	Right Atrium	heart
7	chr8:127878800-127880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:127878800-127881200	Weak transcription	Stomach Mucosa	stomach

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