Variant report

Variant	rs11984716
Chromosome Location	chr8:130781498-130781499
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130777382..130781561-chr8:130783248..130785671,3	K562	blood:
2	chr8:130778949..130780935-chr8:130781435..130782937,2	K562	blood:

Extended variants
information (count: 58 )
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]
rs12334601	1.00[EUR][1000 genomes]
rs16904147	1.00[EUR][1000 genomes]
rs16904151	0.82[YRI][hapmap];0.91[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	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56770303	1.00[EUR][1000 genomes]
rs58136260	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59372581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59501802	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59799475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60229064	1.00[EUR][1000 genomes]
rs60282920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60366798	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60403203	0.88[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	0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7013939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73712950	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73712955	0.88[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:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130778800-130781800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130780000-130787200	Weak transcription	NHEK	skin
3	chr8:130780200-130787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:130780400-130790200	Weak transcription	Spleen	Spleen
5	chr8:130780400-130797000	Weak transcription	Esophagus	oesophagus
6	chr8:130780600-130783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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