Variant report

Variant	rs17716607
Chromosome Location	chr8:95636000-95636001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17644352	1.00[YRI][hapmap]
rs3136429	1.00[ASN][1000 genomes]
rs72676948	1.00[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv516679	chr8:95616980-95638496	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17716607	C8orf47	cis	cerebellum	SCAN
rs17716607	HRSP12	cis	parietal	SCAN
rs17716607	FAM92A1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95634400-95636800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr8:95635600-95636000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95635600-95636000	Enhancers	Gastric	stomach
4	chr8:95635600-95636200	Enhancers	GM12878-XiMat	blood
5	chr8:95635600-95636400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:95635600-95636600	Enhancers	Stomach Mucosa	stomach
7	chr8:95635600-95636600	Enhancers	NHEK	skin
8	chr8:95635800-95636000	Enhancers	Pancreas	Pancrea
9	chr8:95635800-95636400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:95635800-95636400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:95635800-95636400	Enhancers	Colonic Mucosa	Colon
12	chr8:95635800-95636400	Enhancers	HMEC	breast
13	chr8:95635800-95636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:95635800-95636600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr8:95636000-95636600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:95636000-95636600	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:95636000-95637400	Weak transcription	Gastric	stomach
18	chr8:95636000-95650800	Weak transcription	Pancreas	Pancrea

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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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