Variant report

Variant	rs248129
Chromosome Location	chr5:126530046-126530047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:104)

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]
rs10067364	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs1013662	0.85[CEU][hapmap]
rs108558	0.85[EUR][1000 genomes]
rs11960799	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs12332750	0.87[AFR][1000 genomes]
rs12515192	0.85[CEU][hapmap]
rs13178353	0.88[EUR][1000 genomes]
rs13190493	0.91[EUR][1000 genomes]
rs1543815	0.90[EUR][1000 genomes]
rs173555	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860439	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860440	0.92[EUR][1000 genomes]
rs1860441	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs193712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041318	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs2109215	0.82[CEU][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs2191209	0.92[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs2408788	0.90[EUR][1000 genomes]
rs2408789	0.90[EUR][1000 genomes]
rs2436437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248040	0.85[CEU][hapmap];0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap]
rs248042	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs248062	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs248081	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs248091	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248092	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs248093	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs248094	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[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	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs248105	0.86[EUR][1000 genomes]
rs248106	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs248107	0.96[CEU][hapmap];0.86[JPT][hapmap];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	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs248112	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs248113	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248114	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248115	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248116	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248117	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs248118	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248119	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248121	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248124	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248126	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs248128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs248131	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2532882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585204	0.85[EUR][1000 genomes]
rs2898037	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3097870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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]
rs6883871	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs6884988	0.92[EUR][1000 genomes]
rs6887471	0.84[AFR][1000 genomes]
rs6887929	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6888087	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891436	0.85[CEU][hapmap]
rs726990	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs727038	1.00[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs729607	0.85[CEU][hapmap]
rs7700812	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706333	0.85[CEU][hapmap]
rs7713933	0.81[CEU][hapmap]
rs7731621	0.96[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs7734890	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7736693	0.85[CEU][hapmap]
rs885699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9327428	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs9687751	0.95[EUR][1000 genomes]
rs9687752	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9763733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs248129	C5orf63	cis	Artery Tibial	GTEx
rs248129	MARCH3	cis	Muscle Skeletal	GTEx
rs248129	C5orf63	cis	Nerve Tibial	GTEx
rs248129	MARCH3	cis	parietal	SCAN
rs248129	MARCH3	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126529200-126530800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:126529200-126539200	Weak transcription	Muscle Satellite Cultured Cells	--

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