Variant report

Variant	rs4507483
Chromosome Location	chr5:124648423-124648424
allele	A/C
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	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10900775	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11744172	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11747033	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11750563	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12657560	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13164435	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1439598	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1439599	0.84[ASN][1000 genomes]
rs1439600	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1439601	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1439614	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1444648	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1444649	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1550371	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898913	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1992282	0.93[ASN][1000 genomes]
rs2408380	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408382	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35598441	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3898799	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4836173	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs751657	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs930415	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs930416	0.99[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124646200-124648600	Enhancers	NHDF-Ad	bronchial
2	chr5:124646800-124648600	Enhancers	NHLF	lung
3	chr5:124647200-124649200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:124647600-124648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:124648000-124648600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:124648000-124649400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:124648200-124649800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:124648200-124651800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:124648400-124649200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:124648400-124651800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:124648400-124651800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:124648400-124652000	Weak transcription	Osteobl	bone

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