Variant report

Variant	rs12657560
Chromosome Location	chr5:124648135-124648136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10045772	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10900775	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744172	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11747033	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11750563	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13164435	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1439598	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1439599	0.84[ASN][1000 genomes]
rs1439600	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1439601	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1439614	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1444648	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1444649	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1550371	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550372	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898913	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992282	0.93[ASN][1000 genomes]
rs2408380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408382	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35598441	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3898799	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4507483	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4836173	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs751657	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs930415	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs930416	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124645800-124648200	Enhancers	HUVEC	blood vessel
2	chr5:124646200-124648200	Enhancers	NHEK	skin
3	chr5:124646200-124648400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:124646200-124648400	Enhancers	HMEC	breast
5	chr5:124646200-124648400	Enhancers	HSMM	muscle
6	chr5:124646200-124648600	Enhancers	NHDF-Ad	bronchial
7	chr5:124646600-124648200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:124646600-124648200	Enhancers	NH-A	brain
9	chr5:124646600-124648400	Enhancers	Osteobl	bone
10	chr5:124646800-124648600	Enhancers	NHLF	lung
11	chr5:124647000-124648200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:124647200-124649200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:124647400-124648400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:124647600-124648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:124647800-124648200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:124647800-124648200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:124648000-124648200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:124648000-124648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:124648000-124649400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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