Variant report

Variant	rs36715
Chromosome Location	chr5:127562880-127562881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs152906	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs181850	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs185177	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs251213	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs251214	0.86[EUR][1000 genomes]
rs251387	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2546147	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2617621	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36693	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36694	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36697	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36698	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36700	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36702	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36712	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36714	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40527	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs42916	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36715	LOC644869	cis	multi-tissue	Pritchard
rs36715	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127560400-127563200	Weak transcription	Osteobl	bone
2	chr5:127560600-127563000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:127560600-127563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:127561000-127564800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:127561400-127563400	Weak transcription	HSMMtube	muscle
6	chr5:127561600-127563800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:127561800-127563000	Weak transcription	HMEC	breast
8	chr5:127561800-127563000	Weak transcription	HSMM	muscle
9	chr5:127562600-127564800	Enhancers	NH-A	brain
10	chr5:127562800-127563400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:127562800-127564800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:127562800-127565000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:127562800-127565200	Enhancers	Fetal Stomach	stomach

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Input of quick search could be:

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

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