Variant report

Variant	rs36714
Chromosome Location	chr5:127562531-127562532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs152906	0.88[EUR][1000 genomes]
rs181850	0.87[EUR][1000 genomes]
rs185177	0.88[EUR][1000 genomes]
rs251213	0.88[EUR][1000 genomes]
rs251387	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2546147	0.85[AMR][1000 genomes]
rs36693	0.88[EUR][1000 genomes]
rs36694	0.84[EUR][1000 genomes]
rs36697	0.88[EUR][1000 genomes]
rs36698	0.88[EUR][1000 genomes]
rs36700	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36702	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36712	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36715	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40527	0.87[EUR][1000 genomes]
rs42916	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36714	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127560400-127563200	Weak transcription	Osteobl	bone
2	chr5:127560600-127562800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:127560600-127563000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:127560600-127563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:127561000-127564800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:127561400-127563400	Weak transcription	HSMMtube	muscle
7	chr5:127561600-127563800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:127561800-127562800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:127561800-127562800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:127561800-127563000	Weak transcription	HMEC	breast
11	chr5:127561800-127563000	Weak transcription	HSMM	muscle
12	chr5:127562200-127562600	Weak transcription	NH-A	brain

Quick Search:

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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