Variant report

Variant	rs4745511
Chromosome Location	chr9:78762295-78762296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10781341	0.83[EUR][1000 genomes]
rs11144766	0.88[ASN][1000 genomes]
rs1331391	0.87[ASN][1000 genomes]
rs17785192	0.82[ASN][1000 genomes]
rs55835761	0.89[ASN][1000 genomes]
rs9314838	0.87[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	nsv831627	chr9:78651134-78817669	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv893474	chr9:78753324-78784325	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv893475	chr9:78753324-78817288	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4745511	C9orf57	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78688000-78774000	Weak transcription	Left Ventricle	heart
2	chr9:78724000-78767000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:78725400-78766400	Weak transcription	Thymus	Thymus
4	chr9:78748400-78769200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:78751600-78773200	Weak transcription	Fetal Stomach	stomach
6	chr9:78752200-78772000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:78752400-78773400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:78753600-78765000	Weak transcription	Fetal Intestine Small	intestine
9	chr9:78753600-78766800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr9:78753600-78773400	Weak transcription	Ovary	ovary
11	chr9:78757200-78776400	Weak transcription	Psoas Muscle	Psoas
12	chr9:78759600-78764600	Weak transcription	Adipose Nuclei	Adipose
13	chr9:78760600-78771800	Weak transcription	Primary T cells from cord blood	blood
14	chr9:78760600-78773800	Weak transcription	Pancreas	Pancrea
15	chr9:78760800-78765000	Weak transcription	Fetal Lung	lung
16	chr9:78761000-78765000	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:78761000-78766000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:78761800-78763000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr9:78762000-78762600	Weak transcription	Aorta	Aorta
20	chr9:78762200-78762400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:78762200-78762800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr9:78762200-78763000	Enhancers	Primary monocytes fromperipheralblood	blood

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