Variant report

Variant	rs9593114
Chromosome Location	chr13:76242787-76242788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11842861	1.00[AFR][1000 genomes]
rs9593107	0.87[AFR][1000 genomes]
rs9593110	1.00[AFR][1000 genomes]
rs9600510	0.87[AFR][1000 genomes]
rs9600512	0.87[AFR][1000 genomes]
rs9600513	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
4	chr13:76236000-76249200	Weak transcription	Ovary	ovary
5	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76237200-76248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76239000-76243000	Weak transcription	NH-A	brain
8	chr13:76240600-76242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:76240600-76244600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:76241200-76242800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:76241200-76243000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:76241200-76243600	Weak transcription	Psoas Muscle	Psoas
13	chr13:76241200-76255600	Weak transcription	HSMMtube	muscle
14	chr13:76241400-76242800	Weak transcription	NHLF	lung
15	chr13:76241400-76243000	Weak transcription	HSMM	muscle
16	chr13:76241400-76243000	Genic enhancers	Osteobl	bone
17	chr13:76241800-76243200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:76242000-76243000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:76242200-76244400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:76242400-76243200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:76242400-76247800	Genic enhancers	Muscle Satellite Cultured Cells	--
22	chr13:76242600-76243000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:76242600-76244800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76242600-76244800	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links