Variant report

Variant	rs13156109
Chromosome Location	chr5:40906076-40906077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1376182	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1910016	0.85[CEU][hapmap];0.88[LWK][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2597746	0.89[YRI][hapmap]
rs323561	0.85[CEU][hapmap]
rs438652	0.83[YRI][hapmap]
rs4957144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13156109	C1orf146	trans	cerebellum	SCAN
rs13156109	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs13156109	RPL37	cis	cerebellum	SCAN
rs13156109	RICTOR	cis	cerebellum	SCAN
rs13156109	DAB2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40897000-40906200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:40903200-40906200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:40903600-40906600	Enhancers	Ovary	ovary
4	chr5:40904400-40907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:40904600-40909600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:40905200-40907400	Enhancers	Fetal Intestine Small	intestine
7	chr5:40905200-40909000	Weak transcription	Fetal Kidney	kidney
8	chr5:40905400-40906200	Weak transcription	Pancreas	Pancrea
9	chr5:40905400-40907400	Weak transcription	Aorta	Aorta
10	chr5:40905400-40908600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:40905400-40908800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:40905400-40909200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:40905400-40909200	Weak transcription	Stomach Mucosa	stomach
14	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:40905600-40908200	Weak transcription	Fetal Lung	lung
16	chr5:40905600-40909200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:40905600-40909400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:40905600-40909800	Weak transcription	Liver	Liver
19	chr5:40905600-40915000	Weak transcription	Gastric	stomach
20	chr5:40905800-40906200	Weak transcription	HepG2	liver
21	chr5:40906000-40906600	Enhancers	Fetal Intestine Large	intestine
22	chr5:40906000-40907000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:40906000-40909200	Weak transcription	Fetal Heart	heart

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