Variant report

Variant	rs6876347
Chromosome Location	chr5:68444875-68444876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11950560	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956460	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11957226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11957252	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs16898593	0.81[AMR][1000 genomes]
rs55696804	0.93[AMR][1000 genomes]
rs56911258	0.93[AMR][1000 genomes]
rs57402724	0.87[AMR][1000 genomes]
rs58381452	0.87[AMR][1000 genomes]
rs58742544	0.82[AMR][1000 genomes]
rs59776629	0.87[AMR][1000 genomes]
rs60029609	0.93[AMR][1000 genomes]
rs61244656	0.82[AMR][1000 genomes]
rs61414473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61641671	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6868639	0.93[AMR][1000 genomes]
rs6876502	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887755	0.93[AMR][1000 genomes]
rs73772307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772309	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73772310	0.93[AMR][1000 genomes]
rs7736273	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:68421600-68447000	Weak transcription	Ovary	ovary
3	chr5:68443600-68462000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:68444600-68445400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:68444800-68445400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:68444800-68445400	Enhancers	NHEK	skin
7	chr5:68444800-68445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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