Variant report

Variant	rs12658162
Chromosome Location	chr5:112513648-112513649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13153785	0.92[EUR][1000 genomes]
rs1345078	0.85[EUR][1000 genomes]
rs1348431	0.91[EUR][1000 genomes]
rs2044241	0.84[EUR][1000 genomes]
rs2416313	0.85[EUR][1000 genomes]
rs2416314	0.85[EUR][1000 genomes]
rs2900071	0.85[EUR][1000 genomes]
rs935163	0.84[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112500800-112513800	Weak transcription	Lung	lung
2	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112503200-112514000	Weak transcription	Fetal Stomach	stomach
4	chr5:112503800-112514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
6	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:112506200-112518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:112509800-112513800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:112509800-112513800	Weak transcription	Fetal Kidney	kidney
12	chr5:112512000-112514200	Enhancers	Right Atrium	heart
13	chr5:112512000-112515600	Enhancers	Liver	Liver
14	chr5:112512000-112515800	Enhancers	Left Ventricle	heart
15	chr5:112512000-112516200	Enhancers	Right Ventricle	heart
16	chr5:112512200-112513800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112512200-112515800	Enhancers	Psoas Muscle	Psoas
18	chr5:112512400-112514400	Weak transcription	Stomach Mucosa	stomach
19	chr5:112512600-112513800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:112512600-112513800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:112512600-112513800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:112512800-112518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:112513000-112514200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:112513000-112521400	Weak transcription	NHEK	skin
26	chr5:112513600-112514000	Flanking Active TSS	Fetal Heart	heart
27	chr5:112513600-112514200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:112513600-112514800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:112513600-112515200	Enhancers	Fetal Lung	lung
30	chr5:112513600-112515200	Enhancers	HSMMtube	muscle
31	chr5:112513600-112515400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:112513600-112515600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:112513600-112515600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:112513600-112515600	Enhancers	Ovary	ovary
35	chr5:112513600-112516000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr5:112513600-112516000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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