Variant report

Variant	rs6870753
Chromosome Location	chr5:101883924-101883925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11958430	1.00[AMR][1000 genomes]
rs11959912	1.00[EUR][1000 genomes]
rs17152019	1.00[EUR][1000 genomes]
rs17154026	1.00[AMR][1000 genomes]
rs58716855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59290324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59862038	1.00[EUR][1000 genomes]
rs60180431	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6596512	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869156	1.00[AMR][1000 genomes]
rs6870563	1.00[AMR][1000 genomes]
rs6870818	1.00[EUR][1000 genomes]
rs6872779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6877095	1.00[YRI][hapmap]
rs6880379	1.00[AMR][1000 genomes]
rs6890942	1.00[AMR][1000 genomes]
rs6892195	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6893171	0.83[YRI][hapmap]
rs73774846	1.00[AMR][1000 genomes]
rs7703621	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7707787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7716303	1.00[AMR][1000 genomes]
rs7721591	1.00[AMR][1000 genomes]
rs7724728	1.00[AMR][1000 genomes]
rs7729678	1.00[AMR][1000 genomes]
rs7736083	1.00[EUR][1000 genomes]
rs9686868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv830428	chr5:101797242-101958791	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1022583	chr5:101829366-101899242	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1033193	chr5:101859229-102420837	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101863400-101885600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:101878800-101884000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:101878800-101884200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:101881200-101884400	Weak transcription	Left Ventricle	heart
5	chr5:101882200-101884200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:101882800-101884200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:101882800-101884200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:101883200-101884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:101883800-101884000	Bivalent Enhancer	HSMMtube	muscle
10	chr5:101883800-101884600	Enhancers	Fetal Kidney	kidney
11	chr5:101883800-101884800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:101883800-101884800	Enhancers	Monocytes-CD14+_RO01746	blood

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