Variant report

Variant	rs17062239
Chromosome Location	chr9:78839518-78839519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10869735	0.88[ASN][1000 genomes]
rs11144798	0.88[ASN][1000 genomes]
rs62563392	0.95[ASN][1000 genomes]
rs62563393	0.95[ASN][1000 genomes]
rs7867671	0.91[AMR][1000 genomes];0.96[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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893476	chr9:78768830-78887992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78814000-78848200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:78830800-78842400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:78834800-78840600	Weak transcription	Fetal Intestine Small	intestine
4	chr9:78835000-78840400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:78837000-78840600	Weak transcription	Fetal Intestine Large	intestine
6	chr9:78838600-78839600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:78838600-78840200	Enhancers	Ovary	ovary
8	chr9:78838800-78839600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:78838800-78841000	Enhancers	Placenta	Placenta
10	chr9:78839000-78840200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:78839400-78839600	Enhancers	Sigmoid Colon	Sigmoid Colon

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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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