Variant report

Variant	rs62518491
Chromosome Location	chr8:79121221-79121222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10089274	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10096125	1.00[EUR][1000 genomes]
rs10504664	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12335288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16905546	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16905558	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16939626	0.81[EUR][1000 genomes]
rs16939627	0.90[EUR][1000 genomes]
rs16939630	0.93[EUR][1000 genomes]
rs28441036	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28818281	0.96[EUR][1000 genomes]
rs34883856	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55915248	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56107472	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518485	1.00[EUR][1000 genomes]
rs62518502	0.93[EUR][1000 genomes]
rs72674598	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9298309	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831364	chr8:79034769-79223319	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891055	chr8:79110386-79256864	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79117400-79122600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:79117600-79122600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:79117800-79122400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:79118400-79123800	Enhancers	NHEK	skin
5	chr8:79118600-79124800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:79118800-79123600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:79118800-79124600	Enhancers	HMEC	breast
8	chr8:79119200-79121400	Enhancers	HUVEC	blood vessel
9	chr8:79119200-79124800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:79119400-79121400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:79119400-79122600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:79119600-79122400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:79119600-79128400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:79119800-79124800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:79120000-79121600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:79120000-79121600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:79120000-79124600	Enhancers	Osteobl	bone
18	chr8:79120400-79121600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:79120400-79123600	Enhancers	Hela-S3	cervix
20	chr8:79120800-79123800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:79121000-79122000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:79121000-79122400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:79121000-79123000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:79121200-79121400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:79121200-79122600	Weak transcription	HSMM	muscle

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