Variant report

Variant	rs780742
Chromosome Location	chr7:65532724-65532725
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1144894	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1144895	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1167395	0.86[AMR][1000 genomes]
rs1167411	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1167612	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1182882	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1183245	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11971949	0.88[AMR][1000 genomes]
rs11974219	0.81[AMR][1000 genomes]
rs11974264	0.82[AMR][1000 genomes]
rs13240492	0.87[AMR][1000 genomes]
rs13247295	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs160635	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2087647	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2220626	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2420168	0.85[AMR][1000 genomes]
rs2949696	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs313804	0.80[EUR][1000 genomes]
rs427557	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs427575	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs432667	0.81[EUR][1000 genomes]
rs448725	0.81[EUR][1000 genomes]
rs55962648	0.87[AMR][1000 genomes]
rs6946143	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6957690	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6958484	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6961717	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs697968	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697969	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs697970	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801282	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs780743	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs780744	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs780998	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs809080	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs875971	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs780742	GS1-124K5.4	cis	Artery Aorta	GTEx
rs780742	RP4-756H11.3	cis	Artery Tibial	GTEx
rs780742	RP4-756H11.3	cis	Thyroid	GTEx
rs780742	RNU6-96P	cis	Thyroid	GTEx
rs780742	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs780742	RP4-756H11.3	cis	Artery Aorta	GTEx
rs780742	GS1-124K5.4	cis	Stomach	GTEx
rs780742	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs780742	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs780742	GS1-124K5.11	cis	Thyroid	GTEx
rs780742	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs780742	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs780742	RP4-756H11.3	cis	lung	GTEx
rs780742	GS1-124K5.4	cis	Whole Blood	GTEx
rs780742	GTF2IRD1P1	cis	Thyroid	GTEx
rs780742	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs780742	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs780742	RP4-756H11.3	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65531200-65537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65532000-65535000	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links