Variant report

Variant	rs7597431
Chromosome Location	chr2:53162266-53162267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10175099	0.87[ASN][1000 genomes]
rs10490578	0.87[ASN][1000 genomes]
rs1077945	0.85[ASN][1000 genomes]
rs11125460	0.87[ASN][1000 genomes]
rs1154747	0.91[ASN][1000 genomes]
rs12232928	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12232931	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12232966	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12233020	0.91[ASN][1000 genomes]
rs12233053	0.90[ASN][1000 genomes]
rs12233252	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12233257	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12474068	0.83[ASN][1000 genomes]
rs1510107	0.87[ASN][1000 genomes]
rs1510108	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510109	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510110	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510111	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17043826	0.87[ASN][1000 genomes]
rs17043829	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17043834	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17043835	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17043857	0.85[ASN][1000 genomes]
rs1858211	0.85[ASN][1000 genomes]
rs1858212	0.87[ASN][1000 genomes]
rs1858213	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1876937	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1978654	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288639	0.84[ASN][1000 genomes]
rs2356682	0.87[ASN][1000 genomes]
rs35254490	0.84[ASN][1000 genomes]
rs35905559	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36080419	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4672085	0.85[ASN][1000 genomes]
rs4672093	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4672094	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55992015	0.82[ASN][1000 genomes]
rs59013056	0.84[ASN][1000 genomes]
rs59981051	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62140315	0.89[ASN][1000 genomes]
rs62140317	0.91[ASN][1000 genomes]
rs62140318	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62140326	0.85[ASN][1000 genomes]
rs66762357	0.90[ASN][1000 genomes]
rs72793436	0.87[ASN][1000 genomes]
rs72793440	0.89[ASN][1000 genomes]
rs72793445	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72793448	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72793458	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7422475	0.87[ASN][1000 genomes]
rs7585428	0.87[ASN][1000 genomes]
rs7596997	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv874136	chr2:53101066-53218774	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv874137	chr2:53114775-53216917	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv874138	chr2:53114775-53218774	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv1009138	chr2:53129701-53167075	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3693331	chr2:53159702-53192269	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53160200-53163200	Enhancers	Hela-S3	cervix
2	chr2:53160600-53162600	Enhancers	NH-A	brain
3	chr2:53160600-53162800	Enhancers	Osteobl	bone
4	chr2:53161000-53162400	Enhancers	NHEK	skin
5	chr2:53161200-53162400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:53161200-53162400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:53161600-53162600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:53161600-53163400	Enhancers	HMEC	breast
9	chr2:53161600-53163600	Enhancers	A549	lung
10	chr2:53161800-53162400	Enhancers	Fetal Intestine Large	intestine
11	chr2:53161800-53162600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:53161800-53162600	Enhancers	Fetal Intestine Small	intestine
13	chr2:53161800-53162800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:53162200-53162400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:53162200-53162400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:53162200-53162400	Flanking Active TSS	Liver	Liver
17	chr2:53162200-53162400	Flanking Active TSS	GM12878-XiMat	blood
18	chr2:53162200-53162600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:53162200-53162600	Active TSS	Right Atrium	heart
20	chr2:53162200-53163400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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