Variant report

Variant	rs4871534
Chromosome Location	chr8:125767663-125767664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs13270557	0.84[ASN][1000 genomes]
rs13279462	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35999233	0.94[ASN][1000 genomes]
rs4242366	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4870926	0.87[ASN][1000 genomes]
rs4871536	0.83[ASN][1000 genomes]
rs4871537	0.83[ASN][1000 genomes]
rs4871538	0.83[ASN][1000 genomes]
rs4871539	0.97[EUR][1000 genomes]
rs4871540	0.93[EUR][1000 genomes]
rs6470269	0.81[JPT][hapmap]
rs6986404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7013867	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823383	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833381	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833511	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs891540	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871534	ATAD2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125761600-125772200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:125763800-125767800	Enhancers	HSMMtube	muscle
3	chr8:125764800-125768600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:125764800-125769400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
6	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:125765200-125769200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:125765800-125767800	Enhancers	Fetal Heart	heart
9	chr8:125766600-125769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:125766800-125767800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:125767000-125767800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:125767000-125767800	Enhancers	Pancreas	Pancrea
13	chr8:125767000-125767800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:125767400-125767800	Enhancers	Left Ventricle	heart
15	chr8:125767400-125767800	Enhancers	Psoas Muscle	Psoas
16	chr8:125767600-125769800	Weak transcription	HSMM	muscle
17	chr8:125767600-125772400	Weak transcription	Osteobl	bone
18	chr8:125767600-125772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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