Variant report

Variant	rs248124
Chromosome Location	chr5:126532961-126532962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10035217	0.85[EUR][1000 genomes]
rs10037625	0.84[EUR][1000 genomes]
rs10038644	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10041457	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1004500	0.85[EUR][1000 genomes]
rs10062622	0.88[EUR][1000 genomes]
rs108558	0.85[EUR][1000 genomes]
rs12332750	0.85[AFR][1000 genomes]
rs13178353	0.88[EUR][1000 genomes]
rs13190493	0.91[EUR][1000 genomes]
rs1543815	0.90[EUR][1000 genomes]
rs173555	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860439	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860440	0.92[EUR][1000 genomes]
rs1860441	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs193712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2041318	0.90[EUR][1000 genomes]
rs2191209	0.85[EUR][1000 genomes]
rs2408788	0.90[EUR][1000 genomes]
rs2408789	0.90[EUR][1000 genomes]
rs2436437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248042	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs248062	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs248091	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs248092	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs248093	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs248094	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs248095	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248096	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248101	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs248102	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248104	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248105	0.86[EUR][1000 genomes]
rs248106	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248107	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248108	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs248109	0.85[EUR][1000 genomes]
rs248111	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs248112	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248113	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248114	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248115	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248116	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248117	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248118	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248119	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248121	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248126	0.85[EUR][1000 genomes]
rs248127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs248128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs248129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248131	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2532882	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585204	0.85[EUR][1000 genomes]
rs2898037	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3095137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3097870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3915634	0.81[EUR][1000 genomes]
rs3936304	0.89[EUR][1000 genomes]
rs3936305	0.89[EUR][1000 genomes]
rs4455612	0.90[EUR][1000 genomes]
rs4835925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4836310	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4836313	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4836315	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57555006	0.84[EUR][1000 genomes]
rs62374042	0.82[EUR][1000 genomes]
rs6864668	0.84[EUR][1000 genomes]
rs6873502	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6875043	0.89[EUR][1000 genomes]
rs6879393	0.84[EUR][1000 genomes]
rs6881948	0.91[EUR][1000 genomes]
rs6883106	0.90[EUR][1000 genomes]
rs6883627	0.91[EUR][1000 genomes]
rs6884988	0.92[EUR][1000 genomes]
rs6887471	0.82[AFR][1000 genomes]
rs6887929	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6888087	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs726990	0.85[EUR][1000 genomes]
rs727038	0.91[EUR][1000 genomes]
rs7700812	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7731621	0.85[EUR][1000 genomes]
rs7734890	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs885699	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9687751	0.95[EUR][1000 genomes]
rs9687752	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9763733	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs990743	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs248124	MARCH3	cis	Muscle Skeletal	GTEx
rs248124	C5orf63	cis	Artery Tibial	GTEx
rs248124	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126529200-126539200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:126532800-126533000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr5:126532800-126533000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:126532800-126533200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:126532800-126533200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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