Variant report

Variant	rs6872973
Chromosome Location	chr5:57016850-57016851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10063185	0.88[EUR][1000 genomes]
rs10461637	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805498	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10940571	0.99[EUR][1000 genomes]
rs10940572	0.99[EUR][1000 genomes]
rs10940573	0.99[EUR][1000 genomes]
rs10940575	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10940576	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742452	0.98[EUR][1000 genomes]
rs11955303	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12523268	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654403	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13157214	0.98[EUR][1000 genomes]
rs13162397	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13166729	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13176491	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13177213	0.97[EUR][1000 genomes]
rs13183265	0.98[EUR][1000 genomes]
rs13184846	0.99[EUR][1000 genomes]
rs13185021	0.99[EUR][1000 genomes]
rs13186318	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1558367	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860575	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041401	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041402	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041403	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041677	0.88[EUR][1000 genomes]
rs2191444	0.95[ASN][1000 genomes]
rs2191447	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2215418	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2408845	0.98[EUR][1000 genomes]
rs2408847	0.89[EUR][1000 genomes]
rs2408848	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4141129	0.87[EUR][1000 genomes]
rs4700212	0.98[EUR][1000 genomes]
rs4700213	0.98[EUR][1000 genomes]
rs4700215	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4700217	0.89[EUR][1000 genomes]
rs6860385	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6885246	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7711714	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7725863	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7726116	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9292141	0.88[EUR][1000 genomes]
rs978225	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs984529	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57012400-57017800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:57012800-57020000	Weak transcription	NHEK	skin
3	chr5:57014400-57020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:57014800-57019400	Weak transcription	NHLF	lung
5	chr5:57015200-57017200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:57015400-57020200	Weak transcription	NHDF-Ad	bronchial
7	chr5:57015800-57018400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:57016000-57020000	Weak transcription	HSMM	muscle
9	chr5:57016200-57017000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:57016400-57017000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:57016400-57017400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:57016600-57017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:57016600-57017000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:57016600-57017400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:57016600-57020400	Weak transcription	A549	lung
16	chr5:57016600-57021400	Weak transcription	Aorta	Aorta
17	chr5:57016800-57017000	Enhancers	HSMMtube	muscle
18	chr5:57016800-57020200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:57016800-57020600	Weak transcription	NH-A	brain

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