Variant report

Variant	rs11986063
Chromosome Location	chr8:117640315-117640316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16888589	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16888611	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16892766	0.86[AMR][1000 genomes]
rs28535528	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv2757288	chr8:117623719-117645687	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
3	esv2759638	chr8:117623719-117645687	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
4	nsv1016449	chr8:117630683-117644145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv1024038	chr8:117630683-117645687	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1020480	chr8:117630683-117652448	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11986063	C8orf53	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117631200-117641600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:117635800-117646200	Weak transcription	Right Atrium	heart
3	chr8:117636400-117670800	Weak transcription	Pancreas	Pancrea
4	chr8:117637400-117656600	Weak transcription	Aorta	Aorta
5	chr8:117638800-117649000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:117639200-117641800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:117639200-117643400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:117639800-117643800	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:117640200-117640400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:117640200-117640600	Enhancers	HSMMtube	muscle
11	chr8:117640200-117641000	Enhancers	K562	blood

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

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