Variant report

Variant	rs60325275
Chromosome Location	chr8:57806481-57806482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10096356	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987435	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991623	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995615	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13340556	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17186180	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17187027	0.88[ASN][1000 genomes]
rs17790033	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17790795	0.88[ASN][1000 genomes]
rs17791051	0.83[ASN][1000 genomes]
rs60942161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1018324	chr8:57806451-57822240	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1026741	chr8:57806451-57823531	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57802000-57806600	Weak transcription	NHLF	lung
2	chr8:57803000-57808000	Enhancers	Hela-S3	cervix
3	chr8:57803400-57806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:57803600-57806600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:57803600-57806600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:57803600-57806600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:57803800-57806600	Weak transcription	HMEC	breast
8	chr8:57804200-57806600	Weak transcription	Osteobl	bone
9	chr8:57804600-57806600	Weak transcription	HSMM	muscle
10	chr8:57805400-57806600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:57805600-57806800	Enhancers	Fetal Heart	heart
12	chr8:57806000-57807400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:57806200-57807200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:57806200-57807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:57806400-57807000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:57806400-57807000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:57806400-57807000	Enhancers	NH-A	brain
18	chr8:57806400-57807600	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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