Variant report

Variant	rs58752744
Chromosome Location	chr8:119664959-119664960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10090978	1.00[ASN][1000 genomes]
rs10095856	1.00[ASN][1000 genomes]
rs10505339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505340	1.00[ASN][1000 genomes]
rs10505341	1.00[ASN][1000 genomes]
rs16891301	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891323	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891338	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030453	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2030454	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641102	1.00[ASN][1000 genomes]
rs55666480	1.00[ASN][1000 genomes]
rs56206420	1.00[ASN][1000 genomes]
rs56707073	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56766049	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56976172	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56978296	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57258372	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57833773	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58370206	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59143029	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59704871	1.00[ASN][1000 genomes]
rs60042461	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60695012	1.00[ASN][1000 genomes]
rs62531915	1.00[ASN][1000 genomes]
rs62531917	1.00[ASN][1000 genomes]
rs62531929	1.00[ASN][1000 genomes]
rs62531930	1.00[ASN][1000 genomes]
rs6987819	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988736	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010079	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313463	1.00[ASN][1000 genomes]
rs73319373	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319376	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319388	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319391	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319397	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319402	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321307	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321311	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321321	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321333	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321347	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321352	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321368	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321374	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321375	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321387	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321401	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323004	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323005	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323007	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323008	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73323016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73708330	1.00[ASN][1000 genomes]
rs73708331	1.00[ASN][1000 genomes]
rs73708333	1.00[ASN][1000 genomes]
rs73710214	1.00[ASN][1000 genomes]
rs73710217	1.00[ASN][1000 genomes]
rs7830872	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv465787	chr8:119641169-119726242	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv470231	chr8:119641169-119726242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv612049	chr8:119641169-119726242	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119662200-119666200	Weak transcription	Right Atrium	heart
2	chr8:119662800-119665000	Enhancers	NHDF-Ad	bronchial
3	chr8:119664000-119668600	Weak transcription	HUVEC	blood vessel
4	chr8:119664000-119668800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:119664000-119669200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:119664000-119669800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:119664000-119669800	Weak transcription	HSMMtube	muscle
8	chr8:119664200-119668600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:119664200-119668800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:119664200-119669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:119664200-119669400	Weak transcription	NHEK	skin
12	chr8:119664400-119668600	Weak transcription	Osteobl	bone
13	chr8:119664400-119669400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:119664400-119669600	Weak transcription	Colon Smooth Muscle	Colon

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