Variant report

Variant	rs6988739
Chromosome Location	chr8:52191502-52191503
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10099560	1.00[EUR][1000 genomes]
rs10099699	1.00[EUR][1000 genomes]
rs10110031	1.00[EUR][1000 genomes]
rs1550235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16915914	0.91[AMR][1000 genomes]
rs16915981	1.00[EUR][1000 genomes]
rs16916019	1.00[EUR][1000 genomes]
rs16916021	1.00[EUR][1000 genomes]
rs16916023	1.00[EUR][1000 genomes]
rs16916024	1.00[EUR][1000 genomes]
rs16916051	1.00[EUR][1000 genomes]
rs16916053	1.00[EUR][1000 genomes]
rs6982243	1.00[EUR][1000 genomes]
rs6984835	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985145	1.00[EUR][1000 genomes]
rs6985579	1.00[EUR][1000 genomes]
rs6986409	1.00[EUR][1000 genomes]
rs6986594	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6991317	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992306	1.00[EUR][1000 genomes]
rs6993031	1.00[EUR][1000 genomes]
rs6996727	1.00[EUR][1000 genomes]
rs7818297	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][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	nsv932026	chr8:51858658-52758574	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv2764079	chr8:51881783-52202880	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1030378	chr8:51892949-52191830	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv948338	chr8:52060314-52368754	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv982149	chr8:52185110-52191544	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3584889	chr8:52188402-52197148	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv890895	chr8:52190571-52615191	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52184200-52197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:52190200-52193800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links