Variant report

Variant	rs57973835
Chromosome Location	chr2:205603595-205603596
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs16836499	1.00[AMR][1000 genomes]
rs41454345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55885667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55900334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56034781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58058037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58415117	0.84[AFR][1000 genomes]
rs58776976	1.00[AMR][1000 genomes]
rs59083056	1.00[AMR][1000 genomes]
rs59155262	1.00[AMR][1000 genomes]
rs60803761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6718742	0.84[AFR][1000 genomes]
rs6739672	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982509	1.00[AMR][1000 genomes]
rs73982510	1.00[AMR][1000 genomes]
rs73982518	1.00[AMR][1000 genomes]
rs73982520	1.00[AMR][1000 genomes]
rs73982553	1.00[AMR][1000 genomes]
rs73982557	0.84[AFR][1000 genomes]
rs73984285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73986207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568881	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205597600-205612800	Weak transcription	HSMM	muscle
2	chr2:205603000-205604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:205603200-205603600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:205603200-205603600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:205603200-205603600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:205603200-205603600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:205603200-205604200	Enhancers	Osteobl	bone

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