Variant report

Variant	rs6861348
Chromosome Location	chr5:126435308-126435309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10037625	0.84[EUR][1000 genomes]
rs108558	0.82[EUR][1000 genomes]
rs13178353	0.81[EUR][1000 genomes]
rs2109215	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2408789	0.80[AMR][1000 genomes]
rs2408790	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs248062	0.84[EUR][1000 genomes]
rs248105	0.81[EUR][1000 genomes]
rs248109	0.82[EUR][1000 genomes]
rs248113	0.80[EUR][1000 genomes]
rs248118	0.80[EUR][1000 genomes]
rs248121	0.80[EUR][1000 genomes]
rs6859962	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6864668	0.84[EUR][1000 genomes]
rs6879393	0.84[EUR][1000 genomes]
rs6883672	0.89[EUR][1000 genomes]
rs6898415	0.86[EUR][1000 genomes]
rs727038	0.80[AMR][1000 genomes]
rs990743	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	esv1816248	chr5:126399039-126486539	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6861348	MARCH3	cis	Muscle Skeletal	GTEx
rs6861348	C5orf63	cis	Nerve Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126431200-126437000	Weak transcription	Fetal Intestine Large	intestine
2	chr5:126431400-126435800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:126433400-126444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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