Variant report

Variant	rs17135465
Chromosome Location	chr5:112567020-112567021
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112566555..112568778-chr5:112596838..112599414,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10038504	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10053052	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs10053157	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10055327	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10057264	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10057372	0.85[EUR][1000 genomes]
rs10060179	0.85[EUR][1000 genomes]
rs10066163	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10519341	0.82[JPT][hapmap]
rs11952758	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13354840	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13355627	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13358111	0.85[EUR][1000 genomes]
rs17135473	0.85[JPT][hapmap]
rs17376277	0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1822494	0.85[JPT][hapmap]
rs34893422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41420244	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs58404821	0.89[AMR][1000 genomes]
rs59073951	0.95[ASN][1000 genomes]
rs59211196	0.85[EUR][1000 genomes]
rs59823901	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59935751	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6594702	0.85[EUR][1000 genomes]
rs6871668	0.82[JPT][hapmap]
rs6871995	0.80[EUR][1000 genomes]
rs73244753	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73779003	0.85[EUR][1000 genomes]
rs73779004	0.85[EUR][1000 genomes]
rs7705430	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7715071	0.85[EUR][1000 genomes]
rs7715884	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
2	chr5:112557200-112585800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:112558800-112568000	Weak transcription	Psoas Muscle	Psoas
4	chr5:112559000-112568000	Weak transcription	Aorta	Aorta
5	chr5:112559000-112570000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:112559000-112571200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:112560200-112568000	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:112560800-112568400	Weak transcription	Fetal Stomach	stomach
9	chr5:112560800-112569000	Weak transcription	Osteobl	bone
10	chr5:112561200-112570400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:112561400-112568800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:112561600-112575000	Weak transcription	Right Ventricle	heart
13	chr5:112561800-112568000	Weak transcription	Left Ventricle	heart
14	chr5:112562000-112568000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:112562200-112570400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:112564800-112567400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:112565000-112568000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:112565400-112568000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:112565400-112572000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:112565600-112567200	Weak transcription	Ovary	ovary
21	chr5:112565600-112567200	Weak transcription	Right Atrium	heart
22	chr5:112565600-112567800	Weak transcription	Fetal Brain Female	brain
23	chr5:112566000-112568000	Weak transcription	Small Intestine	intestine
24	chr5:112566000-112568400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:112566200-112568200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:112566200-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:112566400-112567200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:112566400-112567400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:112566400-112567400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112566400-112567600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:112566400-112567800	Weak transcription	Fetal Heart	heart
32	chr5:112566400-112568200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:112566400-112568200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:112566400-112569000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:112566400-112569200	Enhancers	HMEC	breast
36	chr5:112566400-112569600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:112566400-112569800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:112566400-112571000	Enhancers	Adipose Nuclei	Adipose
39	chr5:112566400-112571200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:112566400-112572400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:112566400-112574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:112566600-112567200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:112566600-112567200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:112566600-112567200	Flanking Active TSS	NHEK	skin
45	chr5:112566600-112569400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:112566800-112567200	Flanking Active TSS	NH-A	brain
47	chr5:112566800-112567400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:112566800-112567400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:112566800-112568200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:112566800-112568600	Enhancers	HSMM	muscle

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