Variant report

Variant	rs6990874
Chromosome Location	chr8:39943534-39943535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10282846	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10504015	0.92[EUR][1000 genomes]
rs10504016	0.92[EUR][1000 genomes]
rs10504017	0.92[EUR][1000 genomes]
rs12114041	0.97[EUR][1000 genomes]
rs16888751	0.92[EUR][1000 genomes]
rs16888756	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888759	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888767	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs16888769	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888772	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888778	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888781	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888784	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888789	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888796	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888801	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16888804	0.92[EUR][1000 genomes]
rs16888805	0.92[EUR][1000 genomes]
rs16888807	0.92[EUR][1000 genomes]
rs16888813	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2013398	0.92[EUR][1000 genomes]
rs28567739	0.94[EUR][1000 genomes]
rs3899741	0.92[EUR][1000 genomes]
rs55644348	0.87[EUR][1000 genomes]
rs55666363	0.92[EUR][1000 genomes]
rs55704370	0.92[EUR][1000 genomes]
rs55809387	0.92[EUR][1000 genomes]
rs55952840	0.92[EUR][1000 genomes]
rs56114060	0.92[EUR][1000 genomes]
rs56132784	0.92[EUR][1000 genomes]
rs56180191	0.92[EUR][1000 genomes]
rs56185250	0.97[EUR][1000 genomes]
rs57027362	0.92[EUR][1000 genomes]
rs57281613	0.92[EUR][1000 genomes]
rs57326886	0.92[EUR][1000 genomes]
rs57611903	0.86[EUR][1000 genomes]
rs57653585	0.92[EUR][1000 genomes]
rs59995728	0.89[EUR][1000 genomes]
rs60163503	0.81[AMR][1000 genomes]
rs60223559	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60843978	0.92[EUR][1000 genomes]
rs61566582	0.87[EUR][1000 genomes]
rs6990154	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72632070	0.84[EUR][1000 genomes]
rs72632077	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72632084	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72632085	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72632088	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72632098	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72633009	0.92[EUR][1000 genomes]
rs72633010	0.97[EUR][1000 genomes]
rs72633011	0.92[EUR][1000 genomes]
rs72633012	0.92[EUR][1000 genomes]
rs72633013	0.92[EUR][1000 genomes]
rs72633014	0.92[EUR][1000 genomes]
rs72633015	0.92[EUR][1000 genomes]
rs72633016	0.92[EUR][1000 genomes]
rs72633021	0.92[EUR][1000 genomes]
rs72633023	0.92[EUR][1000 genomes]
rs72633024	0.97[EUR][1000 genomes]
rs72633026	0.97[EUR][1000 genomes]
rs72633034	0.92[EUR][1000 genomes]
rs72633036	0.92[EUR][1000 genomes]
rs72633037	0.97[EUR][1000 genomes]
rs72633038	0.92[EUR][1000 genomes]
rs72633040	0.90[EUR][1000 genomes]
rs72633041	0.92[EUR][1000 genomes]
rs72633043	0.97[EUR][1000 genomes]
rs72633044	0.92[EUR][1000 genomes]
rs72633048	0.97[EUR][1000 genomes]
rs72633054	0.92[EUR][1000 genomes]
rs7813461	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7822254	0.92[EUR][1000 genomes]
rs7840924	0.92[EUR][1000 genomes]
rs976813	0.92[EUR][1000 genomes]
rs9785157	0.97[EUR][1000 genomes]
rs9785159	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9785174	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs981193	0.92[EUR][1000 genomes]

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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:39939400-39943600	Weak transcription	Fetal Stomach	stomach
2	chr8:39939600-39943600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:39940000-39950000	Weak transcription	A549	lung
4	chr8:39940600-39945000	Weak transcription	Ovary	ovary
5	chr8:39941000-39945000	Enhancers	Fetal Lung	lung
6	chr8:39941800-39944000	Weak transcription	HepG2	liver
7	chr8:39942000-39943600	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:39942800-39944600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:39943200-39944600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:39943400-39944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:39943400-39944400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:39943400-39944600	Enhancers	Rectal Smooth Muscle	rectum

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