Variant report

Variant	rs248118
Chromosome Location	chr5:126522536-126522537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126214300..126217268-chr5:126520961..126522578,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10037625	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10038644	0.80[AMR][1000 genomes]
rs10041457	0.80[AMR][1000 genomes]
rs108558	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13178353	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs173555	0.86[EUR][1000 genomes]
rs1860439	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1860440	0.80[EUR][1000 genomes]
rs1860441	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs193712	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2109215	0.91[EUR][1000 genomes]
rs2408790	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2436437	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248042	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs248062	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248091	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs248092	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248093	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs248094	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs248095	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248096	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248101	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248102	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248104	0.80[EUR][1000 genomes]
rs248105	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248106	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs248107	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248108	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248109	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248111	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs248112	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs248114	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248115	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248116	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248117	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248119	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248121	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248122	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248124	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248125	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248126	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs248127	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248128	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248129	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs248131	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2532882	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2585204	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2898037	0.84[EUR][1000 genomes]
rs3095137	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3097870	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4835925	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4836315	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57555006	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6859962	0.91[EUR][1000 genomes]
rs6861348	0.80[EUR][1000 genomes]
rs6864668	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6873502	0.80[AMR][1000 genomes]
rs6879393	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6883672	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6888087	0.86[EUR][1000 genomes]
rs6898415	0.87[EUR][1000 genomes]
rs726990	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7700812	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs885699	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9327433	0.85[EUR][1000 genomes]
rs9687751	0.83[EUR][1000 genomes]
rs9687752	0.83[EUR][1000 genomes]
rs9763733	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs990743	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv521086	chr5:126519351-126525350	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs248118	C5orf63	cis	Nerve Tibial	GTEx
rs248118	MARCH3	cis	Muscle Skeletal	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126522000-126522800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:126522000-126523600	Enhancers	Fetal Muscle Leg	muscle
3	chr5:126522400-126522600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:126522400-126522800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:126522400-126522800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:126522400-126523600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:126522400-126523600	Enhancers	HSMM	muscle

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