Variant report

Variant	rs7116758
Chromosome Location	chr11:65570405-65570406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11227301	0.86[AMR][1000 genomes]
rs12362011	0.83[AMR][1000 genomes]
rs12800057	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12801669	0.86[AMR][1000 genomes]
rs34946581	0.86[AMR][1000 genomes]
rs35696016	0.86[AMR][1000 genomes]
rs3759034	0.83[AMR][1000 genomes]
rs56019505	0.83[AMR][1000 genomes]
rs61895678	0.86[AMR][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	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7116758	OVOL1	cis	parietal	SCAN
rs7116758	PLA2G16	cis	parietal	SCAN
rs7116758	MALAT1	cis	parietal	SCAN
rs7116758	PRDX5	cis	parietal	SCAN
rs7116758	ALDH3B1	cis	cerebellum	SCAN
rs7116758	FTH1	cis	parietal	SCAN
rs7116758	SF3B2	cis	cerebellum	SCAN
rs7116758	CAPN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
2	chr11:65563400-65576200	Weak transcription	Pancreas	Pancrea
3	chr11:65563800-65571000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:65565600-65571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:65565600-65571400	Weak transcription	Esophagus	oesophagus
6	chr11:65565600-65577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:65569200-65571400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:65569400-65571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:65569400-65571000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:65570200-65570800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr11:65570200-65571000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr11:65570200-65571000	Flanking Active TSS	GM12878-XiMat	blood
13	chr11:65570200-65571000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
14	chr11:65570400-65571800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

Quick Search:

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

what's new

Quick links