Variant report

Variant	rs13378674
Chromosome Location	chr13:76274802-76274803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17706332	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17706535	1.00[CEU][hapmap];0.95[GIH][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7982226	1.00[JPT][hapmap]
rs9544027	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs9544064	1.00[JPT][hapmap]
rs9593124	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9593136	1.00[JPT][hapmap]
rs9600565	1.00[JPT][hapmap]
rs9600566	1.00[JPT][hapmap]
rs9600569	1.00[JPT][hapmap]
rs9600570	1.00[JPT][hapmap]
rs9600576	1.00[JPT][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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13378674	KCTD12	cis	cerebellum	SCAN
rs13378674	EDNRB	cis	parietal	SCAN
rs13378674	UCHL3	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259600-76294400	Weak transcription	Ovary	ovary
2	chr13:76259800-76282200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:76260400-76279200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:76261000-76277600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr13:76262400-76278600	Weak transcription	Pancreas	Pancrea
6	chr13:76268000-76279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:76268800-76277800	Weak transcription	NH-A	brain
8	chr13:76270400-76275200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:76271200-76276200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:76271200-76276400	Weak transcription	Hela-S3	cervix
11	chr13:76271200-76277400	Weak transcription	Stomach Mucosa	stomach
12	chr13:76271400-76275000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:76271400-76278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:76271400-76286000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:76272400-76278200	Weak transcription	NHEK	skin
16	chr13:76273400-76277400	Weak transcription	NHDF-Ad	bronchial
17	chr13:76273400-76277800	Weak transcription	Fetal Lung	lung
18	chr13:76274200-76275800	Strong transcription	HSMM	muscle
19	chr13:76274400-76276400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr13:76274600-76275000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:76274600-76275200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:76274600-76275600	Enhancers	Aorta	Aorta
23	chr13:76274600-76275600	Enhancers	Placenta	Placenta
24	chr13:76274600-76276000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:76274600-76280400	Genic enhancers	Osteobl	bone
26	chr13:76274800-76275000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr13:76274800-76275000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:76274800-76275000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:76274800-76275000	Genic enhancers	HSMMtube	muscle
30	chr13:76274800-76275200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr13:76274800-76275400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr13:76274800-76275600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr13:76274800-76275800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:76274800-76275800	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr13:76274800-76276800	Enhancers	NHLF	lung
36	chr13:76274800-76277400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links