Variant report

Variant	rs11784691
Chromosome Location	chr8:11541697-11541698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10110029	0.88[CHB][hapmap]
rs11997009	0.87[ASN][1000 genomes]
rs13251684	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28447194	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530664	0.81[ASN][1000 genomes]
rs2898291	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4367493	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4840576	1.00[ASN][1000 genomes]
rs4841583	0.88[CHB][hapmap]
rs56109436	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7386288	0.87[ASN][1000 genomes]

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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11784691	CTSB	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11528800-11547200	Weak transcription	Pancreas	Pancrea
2	chr8:11539000-11547000	Weak transcription	Gastric	stomach
3	chr8:11540200-11541800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:11541000-11541800	Enhancers	Left Ventricle	heart
5	chr8:11541000-11541800	Flanking Active TSS	Ovary	ovary
6	chr8:11541000-11547000	Weak transcription	Right Ventricle	heart
7	chr8:11541400-11541800	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr8:11541600-11541800	Flanking Active TSS	Fetal Heart	heart
9	chr8:11541600-11541800	Enhancers	Right Atrium	heart
10	chr8:11541600-11541800	Bivalent Enhancer	Small Intestine	intestine
11	chr8:11541600-11542000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
12	chr8:11541600-11542000	Enhancers	Stomach Mucosa	stomach
13	chr8:11541600-11543600	Bivalent Enhancer	hESC Derived CD184+ Endoderm 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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