Variant report

Variant	rs12000462
Chromosome Location	chr9:78979023-78979024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10116826	1.00[EUR][1000 genomes]
rs10117138	1.00[EUR][1000 genomes]
rs11144936	1.00[EUR][1000 genomes]
rs12003549	1.00[EUR][1000 genomes]
rs12340744	1.00[EUR][1000 genomes]
rs12343728	1.00[EUR][1000 genomes]
rs17062615	1.00[EUR][1000 genomes]
rs17062617	1.00[EUR][1000 genomes]
rs17062620	1.00[EUR][1000 genomes]
rs2067627	1.00[EUR][1000 genomes]
rs28607333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28803171	1.00[EUR][1000 genomes]
rs35340990	1.00[EUR][1000 genomes]
rs4606124	1.00[EUR][1000 genomes]
rs56914572	1.00[EUR][1000 genomes]
rs57011789	1.00[EUR][1000 genomes]
rs7027657	1.00[EUR][1000 genomes]
rs7029047	1.00[EUR][1000 genomes]
rs7032475	1.00[EUR][1000 genomes]
rs73464506	1.00[EUR][1000 genomes]
rs7874984	1.00[EUR][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	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	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78964400-78986400	Weak transcription	Colonic Mucosa	Colon
2	chr9:78969200-78988000	Weak transcription	Aorta	Aorta
3	chr9:78971400-78979800	Weak transcription	Stomach Mucosa	stomach
4	chr9:78974400-78979800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:78976400-78980200	Enhancers	Fetal Intestine Large	intestine
6	chr9:78977800-78979600	Enhancers	Fetal Intestine Small	intestine
7	chr9:78978000-78979400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr9:78978400-78980400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:78978400-78981200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:78978600-78979600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:78978600-78981200	Weak transcription	K562	blood
12	chr9:78978600-78983800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:78978800-78979200	Weak transcription	A549	lung
14	chr9:78978800-78979200	Weak transcription	HepG2	liver
15	chr9:78978800-78987000	Weak transcription	Small Intestine	intestine

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