Variant report

Variant	rs17135496
Chromosome Location	chr5:112585928-112585929
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	chr5:112585167..112587277-chr5:112587981..112591044,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10519345	0.89[YRI][hapmap]
rs1116546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135585	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17135602	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236486	1.00[AMR][1000 genomes]
rs73241728	0.82[AFR][1000 genomes]
rs73244758	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73250473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112572400-112590400	Weak transcription	Liver	Liver
2	chr5:112579600-112587000	Weak transcription	Aorta	Aorta
3	chr5:112580600-112597400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:112581400-112590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112582200-112586400	Weak transcription	HMEC	breast
6	chr5:112582800-112586000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:112582800-112586000	Weak transcription	Placenta	Placenta
8	chr5:112582800-112586400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:112582800-112586400	Weak transcription	NHEK	skin
10	chr5:112582800-112601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:112583000-112586200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:112583000-112586400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:112583000-112604600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:112583200-112586400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:112583200-112587000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:112583600-112586000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112583600-112599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:112583800-112586000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:112583800-112587000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:112583800-112588000	Enhancers	Fetal Heart	heart
21	chr5:112584400-112586400	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:112584400-112587400	Enhancers	NH-A	brain
23	chr5:112584400-112587400	Enhancers	Osteobl	bone
24	chr5:112584800-112586000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:112584800-112586200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:112584800-112586800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:112585000-112587000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:112585000-112589000	Enhancers	Right Ventricle	heart
29	chr5:112585000-112589400	Enhancers	Ovary	ovary
30	chr5:112585200-112586000	Enhancers	Brain Angular Gyrus	brain
31	chr5:112585200-112586000	Enhancers	Lung	lung
32	chr5:112585200-112586000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:112585200-112586600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:112585200-112586600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:112585200-112586600	Enhancers	Fetal Stomach	stomach
36	chr5:112585200-112587600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:112585200-112588000	Enhancers	HUVEC	blood vessel
38	chr5:112585200-112588200	Enhancers	Fetal Muscle Leg	muscle
39	chr5:112585200-112588400	Enhancers	Right Atrium	heart
40	chr5:112585200-112589400	Enhancers	Left Ventricle	heart
41	chr5:112585400-112586000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:112585400-112586000	Enhancers	Colon Smooth Muscle	Colon
43	chr5:112585400-112586000	Enhancers	Esophagus	oesophagus
44	chr5:112585400-112586200	Enhancers	Psoas Muscle	Psoas
45	chr5:112585400-112586200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:112585400-112586200	Enhancers	Stomach Mucosa	stomach
47	chr5:112585400-112586800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:112585400-112586800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:112585400-112586800	Enhancers	Fetal Kidney	kidney
50	chr5:112585400-112587200	Enhancers	NHDF-Ad	bronchial

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