Variant report

Variant	rs11217686
Chromosome Location	chr11:119963819-119963820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10892533	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217695	0.82[ASN][1000 genomes]
rs1125618	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602430	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12363785	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791310	0.86[ASN][1000 genomes]
rs56313145	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11217686	SIK3	cis	cerebellum	SCAN
rs11217686	VPS11	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119960200-119964400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119961800-119966000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:119962400-119964000	Weak transcription	Left Ventricle	heart
4	chr11:119962400-119965800	Weak transcription	Esophagus	oesophagus
5	chr11:119963200-119967000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:119963400-119964200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:119963400-119965400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:119963400-119965400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:119963400-119965600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:119963400-119966200	Weak transcription	Fetal Intestine Small	intestine
11	chr11:119963600-119964000	Weak transcription	Brain Substantia Nigra	brain
12	chr11:119963600-119964000	Weak transcription	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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