Variant report

Variant	rs1018088
Chromosome Location	chr8:104093359-104093360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1497448	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1566159	0.92[CEU][hapmap];0.85[CHD][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2047375	0.87[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2454040	0.82[EUR][1000 genomes]
rs2515206	0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs3942966	0.81[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4734069	0.83[AMR][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv891247	chr8:104090979-104121862	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv521033	chr8:104093359-104110575	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1018088	ATP6V1C1	cis	multi-tissue	Pritchard
rs1018088	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104091400-104094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:104091600-104094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:104092000-104094400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:104092400-104121600	Weak transcription	Right Atrium	heart
5	chr8:104092800-104093400	Enhancers	Left Ventricle	heart
6	chr8:104092800-104093400	Enhancers	Stomach Mucosa	stomach
7	chr8:104093000-104093400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:104093000-104093400	Enhancers	Placenta	Placenta
9	chr8:104093000-104093400	Enhancers	Gastric	stomach
10	chr8:104093000-104093400	Enhancers	Pancreas	Pancrea
11	chr8:104093200-104093400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:104093200-104093400	Enhancers	Spleen	Spleen
13	chr8:104093200-104094000	Enhancers	Brain Germinal Matrix	brain
14	chr8:104093200-104095000	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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