Variant report

Variant	rs6757757
Chromosome Location	chr2:113236428-113236429
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000125611	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000188177	Chromatin interaction
ENSG00000125630	Chromatin interaction
ENSG00000114999	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11682795	0.86[CEU][hapmap]
rs11685514	0.85[CEU][hapmap]
rs11688511	0.86[CEU][hapmap]
rs13025468	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1465817	0.92[CEU][hapmap]
rs1561266	0.85[CEU][hapmap]
rs3961916	0.86[CEU][hapmap]
rs4516428	0.86[CEU][hapmap]
rs6542056	0.85[CEU][hapmap]
rs6707618	0.85[CEU][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6726169	0.85[CEU][hapmap]
rs6729910	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6759275	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7570679	0.85[CEU][hapmap]

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	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs6757757	RGPD8	cis	Skin Sun Exposed Lower leg	GTEx
rs6757757	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs6757757	RGPD8	cis	Adipose Subcutaneous	GTEx
rs6757757	RGPD8	cis	Nerve Tibial	GTEx
rs6757757	RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs6757757	RGPD8	cis	Artery Tibial	GTEx
rs6757757	RGPD8	cis	Esophagus Mucosa	GTEx
rs6757757	RGPD8	cis	Thyroid	GTEx
rs6757757	RGPD8	cis	Whole Blood	GTEx
rs6757757	RGPD8	cis	Muscle Skeletal	GTEx
rs6757757	RGPD8	cis	Artery Aorta	GTEx
rs6757757	RGPD8	cis	Heart Left Ventricle	GTEx
rs6757757	RGPD8	cis	Esophagus Muscularis	GTEx
rs6757757	RGPD8	cis	lung	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113233000-113238400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:113233200-113238200	Weak transcription	NHDF-Ad	bronchial
3	chr2:113233400-113238200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:113233400-113238200	Weak transcription	Osteobl	bone
5	chr2:113234600-113238000	Weak transcription	HepG2	liver
6	chr2:113234600-113238200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:113235800-113238000	Weak transcription	Stomach Smooth Muscle	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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