Variant report

Variant	rs17135393
Chromosome Location	chr5:112513045-112513046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17135372	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17135375	0.80[EUR][1000 genomes]
rs17135382	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135386	0.82[EUR][1000 genomes]
rs17135387	0.80[LWK][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs17135388	0.87[CEU][hapmap];0.91[EUR][1000 genomes]
rs6871346	0.81[YRI][hapmap]
rs7710676	0.80[EUR][1000 genomes]
rs7732217	0.87[CEU][hapmap];0.91[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:32 , 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	chr5:112503000-112513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:112503200-112514000	Weak transcription	Fetal Stomach	stomach
5	chr5:112503800-112514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
7	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:112506200-112518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:112509800-112513800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:112509800-112513800	Weak transcription	Fetal Kidney	kidney
13	chr5:112510600-112513600	Enhancers	Fetal Heart	heart
14	chr5:112512000-112514200	Enhancers	Right Atrium	heart
15	chr5:112512000-112515600	Enhancers	Liver	Liver
16	chr5:112512000-112515800	Enhancers	Left Ventricle	heart
17	chr5:112512000-112516200	Enhancers	Right Ventricle	heart
18	chr5:112512200-112513600	Weak transcription	Fetal Lung	lung
19	chr5:112512200-112513800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:112512200-112515800	Enhancers	Psoas Muscle	Psoas
21	chr5:112512400-112514400	Weak transcription	Stomach Mucosa	stomach
22	chr5:112512600-112513600	Weak transcription	Ovary	ovary
23	chr5:112512600-112513600	Weak transcription	HSMMtube	muscle
24	chr5:112512600-112513800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:112512600-112513800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:112512600-112513800	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
28	chr5:112512800-112513600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:112512800-112518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:112513000-112513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:112513000-112514200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:112513000-112521400	Weak transcription	NHEK	skin

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