Variant report

Variant	rs17135370
Chromosome Location	chr5:112503084-112503085
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112492254..112496189-chr5:112498530..112504608,6	K562	blood:

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

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

rs_ID	r²[population]
rs10478113	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs10519335	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10519338	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12186708	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12187343	0.85[EUR][1000 genomes]
rs17135341	1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17135397	0.84[ASN][1000 genomes]
rs2416316	1.00[JPT][hapmap]
rs55824950	0.92[EUR][1000 genomes]
rs58319162	0.87[ASN][1000 genomes]
rs6865341	0.86[MEX][hapmap]
rs6899273	1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7719693	1.00[MEX][hapmap]
rs7731121	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7732705	0.96[AMR][1000 genomes];0.88[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112497600-112503600	Enhancers	Ovary	ovary
5	chr5:112497800-112503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:112497800-112504400	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:112498000-112503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:112498800-112503200	Enhancers	Fetal Heart	heart
9	chr5:112499400-112506400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:112500000-112503200	Enhancers	Liver	Liver
11	chr5:112500000-112507000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:112500200-112503200	Enhancers	Fetal Lung	lung
13	chr5:112500800-112506000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:112500800-112513800	Weak transcription	Lung	lung
15	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:112501000-112504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:112501000-112504400	Weak transcription	Esophagus	oesophagus
18	chr5:112501200-112504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112501400-112503800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:112501400-112504800	Weak transcription	Stomach Mucosa	stomach
21	chr5:112501400-112505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:112501600-112503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:112501800-112503200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:112501800-112503200	Enhancers	Fetal Stomach	stomach
25	chr5:112501800-112506200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:112502000-112503200	Enhancers	NHDF-Ad	bronchial
27	chr5:112502000-112504000	Enhancers	HSMM	muscle
28	chr5:112502000-112507000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:112502200-112503200	Enhancers	Stomach Smooth Muscle	stomach
30	chr5:112502200-112503200	Enhancers	HSMMtube	muscle
31	chr5:112502200-112503200	Flanking Active TSS	Osteobl	bone
32	chr5:112502400-112503200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:112502400-112503200	Enhancers	Hela-S3	cervix
34	chr5:112502400-112503200	Flanking Active TSS	NHLF	lung
35	chr5:112502400-112504000	Enhancers	HUVEC	blood vessel
36	chr5:112502400-112504200	Flanking Active TSS	NHEK	skin
37	chr5:112502400-112504800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:112502600-112503200	Enhancers	Placenta	Placenta
39	chr5:112502600-112503600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:112502600-112503800	Enhancers	Left Ventricle	heart
41	chr5:112502600-112504000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:112502800-112503200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:112502800-112503400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:112502800-112503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:112502800-112503600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:112502800-112504600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:112503000-112503200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr5:112503000-112503200	Flanking Active TSS	HMEC	breast
49	chr5:112503000-112503200	Flanking Active TSS	NH-A	brain
50	chr5:112503000-112503600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links