Variant report

Variant	rs73310404
Chromosome Location	chr8:118411593-118411594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10095593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096601	1.00[AMR][1000 genomes]
rs10100736	1.00[AMR][1000 genomes]
rs10104240	1.00[AMR][1000 genomes]
rs10105995	1.00[AMR][1000 genomes]
rs10107653	1.00[AMR][1000 genomes]
rs10109096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889760	1.00[AMR][1000 genomes]
rs16889831	1.00[AMR][1000 genomes]
rs16889924	1.00[AMR][1000 genomes]
rs16892788	1.00[AMR][1000 genomes]
rs2171717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28373245	1.00[AMR][1000 genomes]
rs28397875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28439173	1.00[AMR][1000 genomes]
rs28442252	1.00[AMR][1000 genomes]
rs28492056	1.00[AMR][1000 genomes]
rs28552087	1.00[AMR][1000 genomes]
rs28583342	1.00[AMR][1000 genomes]
rs28612338	1.00[AMR][1000 genomes]
rs28664811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28757759	1.00[AMR][1000 genomes]
rs57987063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321547	1.00[AMR][1000 genomes]
rs73321569	1.00[AMR][1000 genomes]
rs73321581	1.00[AMR][1000 genomes]
rs73321583	1.00[AMR][1000 genomes]
rs73323222	1.00[AMR][1000 genomes]
rs73325255	1.00[AMR][1000 genomes]
rs9656916	1.00[AMR][1000 genomes]
rs9656919	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027039	chr8:118143762-118460954	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv831435	chr8:118266417-118466651	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv428525	chr8:118384428-118543349	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831436	chr8:118384463-118543297	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv972193	chr8:118399518-118413497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118408000-118412600	Enhancers	NHEK	skin
2	chr8:118408400-118412600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:118409200-118412200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:118409600-118412400	Enhancers	NHDF-Ad	bronchial
5	chr8:118409800-118412600	Enhancers	HMEC	breast
6	chr8:118409800-118412800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:118410000-118412600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:118410200-118412000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:118410200-118412200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:118410200-118412400	Enhancers	Osteobl	bone
11	chr8:118410400-118411800	Enhancers	NH-A	brain
12	chr8:118410400-118412400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:118410400-118412800	Enhancers	HUVEC	blood vessel
14	chr8:118410600-118411800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:118410600-118412200	Enhancers	HSMM	muscle
16	chr8:118410800-118412400	Enhancers	Colon Smooth Muscle	Colon
17	chr8:118411000-118411600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:118411000-118411600	Enhancers	HSMMtube	muscle
19	chr8:118411200-118411800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:118411200-118412200	Enhancers	A549	lung
21	chr8:118411200-118412600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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