Variant report

Variant	rs13279462
Chromosome Location	chr8:125771707-125771708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4242366	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871534	1.00[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871539	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871540	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986404	1.00[CEU][hapmap];0.97[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes]
rs7013867	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823383	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833381	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7833511	0.99[EUR][1000 genomes]
rs7841287	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes]

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
rs13279462	ATAD2	cis	cerebellum	SCAN

Chromatin state (count:16 , 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	chr8:125764800-125773600	Weak transcription	NHDF-Ad	bronchial
3	chr8:125765000-125773600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:125767600-125772400	Weak transcription	Osteobl	bone
5	chr8:125767600-125772600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125767800-125772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:125767800-125772400	Weak transcription	Fetal Heart	heart
8	chr8:125767800-125772600	Weak transcription	Pancreas	Pancrea
9	chr8:125770400-125772400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:125770400-125772400	Weak transcription	HSMM	muscle
11	chr8:125770600-125772400	Weak transcription	HSMMtube	muscle
12	chr8:125770800-125773600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:125770800-125773600	Weak transcription	Psoas Muscle	Psoas
14	chr8:125771000-125773400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:125771000-125774200	Enhancers	Fetal Intestine Small	intestine
16	chr8:125771400-125773800	Enhancers	Fetal Intestine Large	intestine

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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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