Variant report

Variant	rs36716
Chromosome Location	chr5:127563563-127563564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs36695	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36696	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36699	0.86[AMR][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	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
2	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	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
rs36716	CAT	trans	lymphoblastoid	seeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127560600-127563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:127561000-127564800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:127561600-127563800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:127562600-127564800	Enhancers	NH-A	brain
5	chr5:127562800-127564800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:127562800-127565000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:127562800-127565200	Enhancers	Fetal Stomach	stomach
8	chr5:127563000-127564400	Enhancers	HMEC	breast
9	chr5:127563000-127564800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:127563000-127564800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:127563000-127564800	Enhancers	Fetal Muscle Leg	muscle
12	chr5:127563000-127564800	Enhancers	HSMM	muscle
13	chr5:127563000-127564800	Enhancers	NHDF-Ad	bronchial
14	chr5:127563200-127564400	Enhancers	Osteobl	bone
15	chr5:127563200-127564600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:127563200-127564800	Enhancers	NHLF	lung
17	chr5:127563400-127564200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:127563400-127564400	Enhancers	HSMMtube	muscle
19	chr5:127563400-127564600	Enhancers	Hela-S3	cervix

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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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