Variant report

Variant	rs57499788
Chromosome Location	chr6:1988435-1988436
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11968615	1.00[AMR][1000 genomes]
rs56088586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56284044	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347469	1.00[AMR][1000 genomes]
rs56403345	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56955166	1.00[AMR][1000 genomes]
rs57708249	1.00[AMR][1000 genomes]
rs58263056	1.00[AMR][1000 genomes]
rs58632404	1.00[AMR][1000 genomes]
rs59618379	1.00[AMR][1000 genomes]
rs59887550	1.00[AMR][1000 genomes]
rs61355927	1.00[AMR][1000 genomes]
rs61635847	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73410433	1.00[AMR][1000 genomes]
rs73412537	1.00[AMR][1000 genomes]
rs73412572	1.00[AMR][1000 genomes]
rs73412576	1.00[AMR][1000 genomes]
rs73412601	1.00[AMR][1000 genomes]
rs73414503	1.00[AMR][1000 genomes]
rs73414507	1.00[AMR][1000 genomes]
rs73417921	1.00[AMR][1000 genomes]
rs73417937	1.00[AMR][1000 genomes]
rs73417944	1.00[AMR][1000 genomes]
rs73425506	1.00[AMR][1000 genomes]
rs73425523	1.00[AMR][1000 genomes]
rs73425536	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425551	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425558	1.00[AMR][1000 genomes]
rs73425566	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425572	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73425600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427404	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718508	1.00[AMR][1000 genomes]
rs7774602	1.00[AMR][1000 genomes]
rs7774932	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv869043	chr6:1744238-2006788	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases
4	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS 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	71 gene(s)	inside rSNPs	diseases
5	nsv1032149	chr6:1848148-2006021	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1972000-1992200	Weak transcription	Gastric	stomach
2	chr6:1979000-1991600	Weak transcription	Fetal Stomach	stomach
3	chr6:1979200-1989400	Weak transcription	HepG2	liver
4	chr6:1985000-2010200	Weak transcription	Fetal Intestine Large	intestine
5	chr6:1985600-1989200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:1986400-1988600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:1986800-1988800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:1987000-1988800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:1987200-1988600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:1987400-1988600	Enhancers	NHEK	skin
11	chr6:1987400-2003600	Weak transcription	Aorta	Aorta
12	chr6:1987600-1988800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:1987600-1988800	Enhancers	HMEC	breast
14	chr6:1987800-1992800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:1988400-1992600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:1988400-1992800	Weak transcription	Osteobl	bone
17	chr6:1988400-1993200	Weak transcription	NH-A	brain
18	chr6:1988400-1993400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:1988400-1993400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:1988400-2008600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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