Variant report

Variant	rs7006113
Chromosome Location	chr8:99078915-99078916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11775531	0.96[CEU][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11779647	0.94[MEX][hapmap]
rs11998201	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13253861	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13262105	0.92[EUR][1000 genomes]
rs13262119	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2877453	0.82[CEU][hapmap];0.88[MEX][hapmap]
rs55698139	0.82[EUR][1000 genomes]
rs7835905	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs9693435	0.81[MEX][hapmap]

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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7006113	ADAM11	trans	cerebellum	SCAN
rs7006113	RGS22	cis	cerebellum	SCAN
rs7006113	UQCRB	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99076200-99079400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr8:99077600-99080400	Weak transcription	Stomach Mucosa	stomach
3	chr8:99077600-99081800	Weak transcription	NHLF	lung
4	chr8:99077600-99083200	Enhancers	Liver	Liver
5	chr8:99078200-99079000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:99078200-99082200	Weak transcription	Pancreas	Pancrea
7	chr8:99078200-99082400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:99078400-99080800	Weak transcription	A549	lung
9	chr8:99078800-99079000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:99078800-99079000	Enhancers	NH-A	brain

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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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