Variant report

Variant	rs4705801
Chromosome Location	chr5:112515405-112515406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007172	0.89[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10072487	0.95[JPT][hapmap]
rs11739347	0.84[CEU][hapmap]
rs11955699	0.80[EUR][1000 genomes]
rs13159159	0.80[EUR][1000 genomes]
rs2416315	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs4705547	0.81[EUR][1000 genomes]
rs6859190	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs6876116	0.80[CEU][hapmap];0.95[JPT][hapmap]
rs6896522	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7703089	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7719681	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
3	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:112506200-112518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112512000-112515600	Enhancers	Liver	Liver
8	chr5:112512000-112515800	Enhancers	Left Ventricle	heart
9	chr5:112512000-112516200	Enhancers	Right Ventricle	heart
10	chr5:112512200-112515800	Enhancers	Psoas Muscle	Psoas
11	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:112512800-112518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:112513000-112521400	Weak transcription	NHEK	skin
14	chr5:112513600-112515600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:112513600-112515600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:112513600-112515600	Enhancers	Ovary	ovary
17	chr5:112513600-112516000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:112513600-112516000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:112513800-112515600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:112513800-112515800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:112513800-112515800	Enhancers	Colon Smooth Muscle	Colon
22	chr5:112513800-112515800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr5:112513800-112515800	Enhancers	Rectal Smooth Muscle	rectum
24	chr5:112513800-112516000	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:112513800-112517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:112514000-112515600	Enhancers	NHDF-Ad	bronchial
27	chr5:112514000-112515800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:112514000-112515800	Enhancers	Fetal Stomach	stomach
29	chr5:112514200-112515600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:112514200-112518600	Weak transcription	Right Atrium	heart
31	chr5:112514400-112515800	Enhancers	Fetal Kidney	kidney
32	chr5:112514400-112516200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:112514600-112515600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr5:112514800-112515600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:112514800-112515800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:112515000-112515600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:112515000-112515600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:112515000-112522200	Weak transcription	Adipose Nuclei	Adipose
40	chr5:112515200-112516000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:112515200-112521600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:112515200-112526400	Weak transcription	Lung	lung
43	chr5:112515400-112515600	Flanking Active TSS	Fetal Heart	heart
44	chr5:112515400-112516000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:112515400-112521400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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