Variant report

Variant	rs73712950
Chromosome Location	chr8:130776932-130776933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10087750	1.00[EUR][1000 genomes]
rs10090126	1.00[EUR][1000 genomes]
rs10091204	1.00[EUR][1000 genomes]
rs10091754	1.00[EUR][1000 genomes]
rs10093443	1.00[EUR][1000 genomes]
rs10095752	1.00[EUR][1000 genomes]
rs10097321	1.00[EUR][1000 genomes]
rs10098794	1.00[EUR][1000 genomes]
rs10101179	1.00[EUR][1000 genomes]
rs10102037	1.00[EUR][1000 genomes]
rs10108374	1.00[EUR][1000 genomes]
rs10283332	1.00[EUR][1000 genomes]
rs11984716	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334601	1.00[EUR][1000 genomes]
rs16904147	1.00[EUR][1000 genomes]
rs16904151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1871943	1.00[EUR][1000 genomes]
rs28380012	1.00[EUR][1000 genomes]
rs28417973	1.00[EUR][1000 genomes]
rs28472437	1.00[EUR][1000 genomes]
rs28520393	1.00[EUR][1000 genomes]
rs28533697	1.00[EUR][1000 genomes]
rs28550585	1.00[EUR][1000 genomes]
rs28578248	1.00[EUR][1000 genomes]
rs28593681	1.00[EUR][1000 genomes]
rs28633939	1.00[EUR][1000 genomes]
rs28656330	1.00[EUR][1000 genomes]
rs28682337	1.00[EUR][1000 genomes]
rs28685780	1.00[EUR][1000 genomes]
rs28795370	1.00[EUR][1000 genomes]
rs55662234	1.00[EUR][1000 genomes]
rs55755123	1.00[EUR][1000 genomes]
rs55864361	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59372581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59501802	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59799475	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60229064	1.00[EUR][1000 genomes]
rs60282920	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60366798	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60403203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61417675	1.00[EUR][1000 genomes]
rs6999729	1.00[EUR][1000 genomes]
rs6999887	1.00[EUR][1000 genomes]
rs7011549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73712955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73712957	1.00[EUR][1000 genomes]
rs73712989	1.00[EUR][1000 genomes]
rs7812685	1.00[EUR][1000 genomes]
rs7812863	1.00[EUR][1000 genomes]
rs7814585	1.00[EUR][1000 genomes]
rs7825122	1.00[EUR][1000 genomes]
rs7831443	1.00[EUR][1000 genomes]
rs9693205	1.00[EUR][1000 genomes]
rs9886600	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428524	chr8:130731660-130894467	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1023632	chr8:130767066-130777995	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130765800-130779200	Weak transcription	Spleen	Spleen
2	chr8:130767200-130780600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:130775000-130779600	Weak transcription	Esophagus	oesophagus
4	chr8:130776000-130777800	Weak transcription	NHEK	skin
5	chr8:130776400-130778800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:130776600-130780200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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