Variant report

Variant	rs4626571
Chromosome Location	chr8:107471670-107471671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10092860	0.83[AFR][1000 genomes]
rs10099574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10102666	0.83[AFR][1000 genomes]
rs10103650	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10108067	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10216339	0.81[AFR][1000 genomes]
rs10955424	0.83[AFR][1000 genomes]
rs11987941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994811	0.81[AFR][1000 genomes]
rs11998575	0.83[AFR][1000 genomes]
rs12547857	0.82[AFR][1000 genomes]
rs13270670	0.82[AFR][1000 genomes]
rs13279442	0.82[AFR][1000 genomes]
rs1453210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1453211	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1453217	0.83[AFR][1000 genomes]
rs16874617	0.83[AFR][1000 genomes]
rs16874643	0.83[AFR][1000 genomes]
rs16874660	0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16874662	0.84[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1901776	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2022967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2123542	0.82[AFR][1000 genomes]
rs2123543	0.82[AFR][1000 genomes]
rs2167798	0.82[AFR][1000 genomes]
rs2167800	0.83[AFR][1000 genomes]
rs28373035	0.82[AFR][1000 genomes]
rs28392768	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523747	0.82[AFR][1000 genomes]
rs28551523	0.82[AFR][1000 genomes]
rs28562014	0.83[AFR][1000 genomes]
rs28620840	0.82[AFR][1000 genomes]
rs28651376	0.83[AFR][1000 genomes]
rs4436099	0.83[AFR][1000 genomes]
rs56051148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56341863	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6469071	0.82[AFR][1000 genomes]
rs7008540	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7009264	0.83[AFR][1000 genomes]
rs7018152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs731156	0.82[AFR][1000 genomes]
rs7812434	0.83[AFR][1000 genomes]
rs7814744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7828149	0.83[AFR][1000 genomes]
rs7828307	0.83[AFR][1000 genomes]
rs7828387	0.83[AFR][1000 genomes]
rs7832133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7838147	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842445	0.82[AFR][1000 genomes]
rs7845625	0.83[AFR][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	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611844	chr8:107440038-107494918	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107466000-107487000	Weak transcription	Aorta	Aorta
2	chr8:107467400-107473800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:107468600-107471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:107468600-107477800	Weak transcription	NHDF-Ad	bronchial
5	chr8:107469200-107473800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:107469400-107472000	Weak transcription	HMEC	breast
7	chr8:107469600-107473400	Weak transcription	HUVEC	blood vessel
8	chr8:107471400-107472400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:107471400-107472800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:107471600-107473000	Enhancers	NHEK	skin

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