Variant report

Variant	rs10478113
Chromosome Location	chr5:112490369-112490370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10477488	0.85[CEU][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10478112	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10519335	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs12186708	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17135341	0.82[CEU][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs17135370	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs6594690	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6594691	0.85[CEU][hapmap];0.80[LWK][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6865341	0.86[MEX][hapmap]
rs6899273	0.82[CEU][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs7714691	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7719036	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7719693	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs7724574	0.82[CEU][hapmap]
rs7732705	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
4	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:112482600-112491400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:112483000-112496800	Weak transcription	HMEC	breast
8	chr5:112483200-112495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112483400-112491800	Weak transcription	NHEK	skin
10	chr5:112483400-112494600	Weak transcription	Psoas Muscle	Psoas
11	chr5:112484200-112491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:112484200-112495600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:112485400-112490400	Enhancers	Ovary	ovary
14	chr5:112485800-112492200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:112485800-112495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:112486800-112494600	Weak transcription	Lung	lung
17	chr5:112486800-112500400	Weak transcription	Gastric	stomach
18	chr5:112487200-112491200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:112487200-112498200	Weak transcription	Esophagus	oesophagus
20	chr5:112488200-112491600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:112488200-112492800	Weak transcription	Right Atrium	heart
22	chr5:112488800-112490800	Enhancers	NHDF-Ad	bronchial
23	chr5:112489000-112492200	Weak transcription	Fetal Heart	heart
24	chr5:112489200-112490400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:112489200-112490400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:112489200-112500000	Weak transcription	Liver	Liver
27	chr5:112489400-112490400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:112489800-112490400	Enhancers	Right Ventricle	heart
29	chr5:112490000-112490400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:112490000-112490400	Enhancers	Left Ventricle	heart
31	chr5:112490200-112491600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:112490200-112498600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links