Variant report

Variant	rs17135404
Chromosome Location	chr5:112518820-112518821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112365166..112368140-chr5:112517224..112519156,2	K562	blood:
2	chr5:112509608..112512785-chr5:112516930..112518881,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10037994	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10053937	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11241194	1.00[CEU][hapmap]
rs13357890	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13357974	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13359897	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1373214	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1373215	1.00[EUR][1000 genomes]
rs17135359	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17135403	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1867323	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2416307	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6897992	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7732695	1.00[CEU][hapmap]
rs7737490	1.00[CEU][hapmap]
rs935160	1.00[CEU][hapmap]

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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
2	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:112513000-112521400	Weak transcription	NHEK	skin
7	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:112515000-112522200	Weak transcription	Adipose Nuclei	Adipose
9	chr5:112515200-112521600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:112515200-112526400	Weak transcription	Lung	lung
11	chr5:112515400-112521400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:112515600-112519200	Enhancers	Fetal Heart	heart
13	chr5:112515600-112519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:112515600-112521000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:112515600-112521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:112515600-112521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:112515600-112521800	Weak transcription	Liver	Liver
18	chr5:112515800-112521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:112515800-112521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:112515800-112530200	Weak transcription	Psoas Muscle	Psoas
21	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
22	chr5:112516000-112521200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:112516000-112521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112516000-112521800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:112516200-112521000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112516400-112524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:112517000-112521400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:112517400-112519600	Enhancers	Left Ventricle	heart
29	chr5:112517600-112525000	Enhancers	Ovary	ovary
30	chr5:112518000-112519200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:112518000-112519200	Weak transcription	Right Ventricle	heart
32	chr5:112518000-112519400	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:112518200-112519000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:112518400-112519400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:112518600-112519600	Enhancers	Right Atrium	heart
36	chr5:112518600-112525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:112518800-112519000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:112518800-112521600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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