Variant report

Variant	rs248116
Chromosome Location	chr5:126521537-126521538
allele	G/T
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: 107 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10035217	0.83[EUR][1000 genomes]
rs10037625	0.82[EUR][1000 genomes]
rs10038644	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10041457	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1004500	0.82[EUR][1000 genomes]
rs10053382	0.81[CEU][hapmap]
rs10057084	0.84[CEU][hapmap]
rs10060747	0.81[CEU][hapmap]
rs10062622	0.86[EUR][1000 genomes]
rs10065302	0.81[CEU][hapmap]
rs10067364	0.84[CEU][hapmap]
rs1013662	0.81[CEU][hapmap]
rs108558	0.82[EUR][1000 genomes]
rs11960799	0.84[CEU][hapmap]
rs12515192	0.84[CEU][hapmap]
rs12655640	0.84[CEU][hapmap]
rs13178353	0.85[EUR][1000 genomes]
rs13190493	0.89[EUR][1000 genomes]
rs1543815	0.88[EUR][1000 genomes]
rs173555	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860439	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1860440	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1860441	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs193712	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041318	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs2109215	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs2191209	0.88[CEU][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes]
rs2408788	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2408789	0.88[EUR][1000 genomes]
rs2436437	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248040	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs248042	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs248081	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs248091	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248092	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs248093	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248094	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248095	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs248096	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs248101	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs248102	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs248104	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs248105	0.83[EUR][1000 genomes]
rs248106	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248107	0.96[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs248108	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs248109	0.82[EUR][1000 genomes]
rs248111	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248112	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs248113	0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248114	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248115	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248117	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs248118	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs248119	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248121	0.84[EUR][1000 genomes]
rs248122	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs248124	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248125	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248126	0.82[EUR][1000 genomes]
rs248127	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs248128	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs248129	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs248131	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2532882	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2585204	0.82[EUR][1000 genomes]
rs2898037	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3095137	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3097870	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3936304	0.86[EUR][1000 genomes]
rs3936305	0.86[EUR][1000 genomes]
rs4455612	0.87[EUR][1000 genomes]
rs4835925	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836310	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4836313	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4836315	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57555006	0.81[EUR][1000 genomes]
rs62374042	0.80[EUR][1000 genomes]
rs6864668	0.82[EUR][1000 genomes]
rs6873502	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6875043	0.86[EUR][1000 genomes]
rs6879393	0.82[EUR][1000 genomes]
rs6881948	0.89[EUR][1000 genomes]
rs6883106	0.88[EUR][1000 genomes]
rs6883627	0.89[EUR][1000 genomes]
rs6883871	0.84[CEU][hapmap]
rs6884988	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6887929	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6888087	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6891436	0.84[CEU][hapmap]
rs726990	0.82[EUR][1000 genomes]
rs727038	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs729607	0.84[CEU][hapmap]
rs7700812	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7706333	0.84[CEU][hapmap]
rs7731621	0.92[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs7734890	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7736693	0.84[CEU][hapmap]
rs885699	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9327428	0.84[CEU][hapmap]
rs9687751	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9687752	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9763733	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs990743	0.85[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs248116	C5orf63	cis	Artery Tibial	GTEx
rs248116	C5orf63	cis	Artery Aorta	GTEx
rs248116	C5orf63	cis	Nerve Tibial	GTEx
rs248116	MARCH3	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126519800-126522400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:126520600-126522400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:126521000-126522000	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:126521200-126522400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:126521400-126521600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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