Variant report

Variant	rs9530472
Chromosome Location	chr13:76421535-76421536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1015694	0.81[CEU][hapmap]
rs1323562	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1323566	0.85[CEU][hapmap]
rs1323567	0.83[CEU][hapmap]
rs1397	0.81[CEU][hapmap]
rs1399	0.83[CEU][hapmap]
rs4884024	0.81[CEU][hapmap]
rs618930	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7321447	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7321748	0.83[CEU][hapmap]
rs7329627	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7981821	0.81[CEU][hapmap]
rs7986876	0.83[CEU][hapmap]
rs7996791	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001552	0.93[EUR][1000 genomes]
rs920701	0.92[ASN][1000 genomes]
rs9318381	0.81[CEU][hapmap]
rs9530470	0.92[ASN][1000 genomes]
rs9530473	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530477	0.83[CEU][hapmap]
rs9544057	0.83[CEU][hapmap]
rs9544060	0.83[CEU][hapmap]
rs9573671	0.87[ASN][1000 genomes]
rs9600563	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs9600572	0.85[CEU][hapmap]
rs9600574	0.81[CEU][hapmap]
rs9600575	0.85[CEU][hapmap]
rs9600577	0.80[CEU][hapmap]
rs9600578	0.83[CEU][hapmap]
rs9600579	0.83[CEU][hapmap]
rs969394	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9530472	C13orf45	cis	Nerve Tibial	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76387800-76427200	Weak transcription	Ovary	ovary
2	chr13:76391200-76431600	Strong transcription	Hela-S3	cervix
3	chr13:76394400-76435800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:76396400-76432000	Weak transcription	Brain Substantia Nigra	brain
5	chr13:76396400-76436800	Weak transcription	Fetal Brain Male	brain
6	chr13:76399000-76433200	Weak transcription	Small Intestine	intestine
7	chr13:76399800-76433000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:76400800-76428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:76406000-76428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:76406000-76429600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:76406000-76430600	Strong transcription	Osteobl	bone
12	chr13:76406000-76436800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr13:76406600-76435000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76406800-76427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76408400-76435000	Strong transcription	HSMMtube	muscle
16	chr13:76408400-76435200	Strong transcription	NH-A	brain
17	chr13:76413200-76436800	Strong transcription	NHDF-Ad	bronchial
18	chr13:76413800-76437600	Strong transcription	HSMM	muscle
19	chr13:76414000-76433000	Strong transcription	Liver	Liver
20	chr13:76414200-76433400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:76414400-76426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:76414400-76435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:76414800-76425400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:76415400-76429200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:76416000-76426800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr13:76416400-76425000	Weak transcription	Esophagus	oesophagus
27	chr13:76416400-76425200	Weak transcription	Lung	lung
28	chr13:76416400-76434600	Weak transcription	Spleen	Spleen
29	chr13:76416600-76423200	Weak transcription	Brain Germinal Matrix	brain
30	chr13:76416600-76423200	Weak transcription	Colonic Mucosa	Colon
31	chr13:76416600-76426400	Weak transcription	HUVEC	blood vessel
32	chr13:76416600-76429800	Weak transcription	Stomach Mucosa	stomach
33	chr13:76417200-76427200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:76417200-76427200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:76417400-76423400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:76417400-76427400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:76417400-76429200	Weak transcription	Adipose Nuclei	Adipose
38	chr13:76417400-76431000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:76417400-76433000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr13:76417400-76434600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr13:76417400-76443800	Weak transcription	Fetal Brain Female	brain
42	chr13:76417600-76421600	Weak transcription	Fetal Kidney	kidney
43	chr13:76417600-76423000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:76417600-76423200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr13:76417600-76423200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:76417600-76423400	Weak transcription	Fetal Lung	lung
47	chr13:76417600-76423600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr13:76417600-76424400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr13:76417600-76424600	Weak transcription	Dnd41	blood
50	chr13:76417600-76425000	Weak transcription	Gastric	stomach

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