Variant report

Variant	rs6946868
Chromosome Location	chr7:83795479-83795480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10488267	0.89[CEU][hapmap]
rs10488268	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs11976072	0.85[CEU][hapmap]
rs12154926	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154929	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13226948	0.83[EUR][1000 genomes]
rs13228082	0.85[CEU][hapmap]
rs13228833	0.89[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs13236303	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17158675	0.82[YRI][hapmap]
rs17158680	0.81[YRI][hapmap]
rs17232537	0.86[CEU][hapmap]
rs17232705	0.86[CEU][hapmap]
rs17242340	0.89[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17298417	0.85[CEU][hapmap]
rs2057845	0.85[CEU][hapmap]
rs2888221	0.89[CEU][hapmap]
rs34897715	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35195619	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35360498	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801615	0.81[CEU][hapmap]
rs3801616	0.81[CEU][hapmap]
rs3801622	0.89[CEU][hapmap]
rs3801629	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs3801630	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs3801633	0.89[CEU][hapmap]
rs3801634	0.89[CEU][hapmap]
rs3801637	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs3801643	0.89[CEU][hapmap]
rs3823911	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs41441447	0.85[CEU][hapmap]
rs4732540	0.95[CEU][hapmap]
rs4732541	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6957333	0.83[EUR][1000 genomes]
rs6965990	0.85[CEU][hapmap]
rs6966352	0.82[YRI][hapmap]
rs6970168	0.89[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs727650	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs727651	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs7780843	0.88[CEU][hapmap]
rs7785176	0.85[CEU][hapmap]
rs7786079	0.81[YRI][hapmap]
rs7790681	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7804363	0.85[CEU][hapmap]
rs7806871	0.85[CEU][hapmap]
rs917089	0.85[CEU][hapmap]
rs917090	0.89[CEU][hapmap];0.82[CHB][hapmap]

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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv888630	chr7:83782839-83809111	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83777000-83803000	Weak transcription	NHLF	lung
2	chr7:83778000-83803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:83785000-83803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:83787400-83803000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:83787800-83804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:83792200-83797000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:83792200-83801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:83792400-83796400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:83792400-83796600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:83792400-83803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:83792400-83803000	Weak transcription	Fetal Lung	lung
13	chr7:83792400-83803000	Weak transcription	Fetal Stomach	stomach
14	chr7:83792400-83803400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:83792600-83803000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:83794400-83796200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:83795000-83795600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:83795000-83795600	Strong transcription	NHDF-Ad	bronchial

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