Variant report

Variant	rs10080023
Chromosome Location	chr5:115919894-115919895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10045872	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10046086	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10053792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061055	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10062998	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10066922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070276	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10073289	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10074788	1.00[ASN][1000 genomes]
rs10075410	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1027742	0.92[ASN][1000 genomes]
rs11953558	0.98[ASN][1000 genomes]
rs12719220	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13354122	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13355655	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13357599	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13360587	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1345706	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1345707	0.91[ASN][1000 genomes]
rs17140120	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17140171	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17140176	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17140201	0.88[EUR][1000 genomes]
rs1862372	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1862373	0.83[ASN][1000 genomes]
rs2840113	0.92[ASN][1000 genomes]
rs28489253	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806914	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806915	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3806916	0.97[ASN][1000 genomes]
rs56257700	0.84[ASN][1000 genomes]
rs57497884	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57557217	1.00[ASN][1000 genomes]
rs58364462	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59351578	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60783407	0.81[AMR][1000 genomes]
rs6878936	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897765	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898172	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73780374	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73780375	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9327010	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327011	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327012	0.96[ASN][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	esv2763490	chr5:115918339-116138525	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115912400-115930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:115913200-115927200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:115915200-115920600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:115916800-115920000	Enhancers	Fetal Lung	lung
5	chr5:115918200-115921000	Enhancers	NHEK	skin
6	chr5:115918800-115920000	Enhancers	HUVEC	blood vessel
7	chr5:115919200-115920000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:115919200-115920200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:115919200-115920200	Enhancers	HMEC	breast
10	chr5:115919200-115920400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:115919600-115920000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:115919600-115920200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:115919800-115920800	Weak transcription	Hela-S3	cervix
14	chr5:115919800-115921000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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