Variant report

Variant	rs17135457
Chromosome Location	chr5:112553474-112553475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2416309	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4705550	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7717906	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112539200-112554000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112546600-112555800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:112546800-112553800	Enhancers	Ovary	ovary
4	chr5:112547200-112555600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:112547800-112555600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:112547800-112555800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:112548000-112555600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:112548400-112581800	Weak transcription	Fetal Kidney	kidney
9	chr5:112548600-112554000	Weak transcription	HUVEC	blood vessel
10	chr5:112549000-112554000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:112549600-112559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:112550000-112556800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:112550200-112559600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:112550600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:112551000-112553600	Weak transcription	Brain Hippocampus Middle	brain
16	chr5:112551000-112556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:112551200-112554000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:112551400-112553600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:112551400-112556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:112551600-112555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:112551600-112559800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr5:112551800-112557000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:112551800-112557000	Weak transcription	NHDF-Ad	bronchial
24	chr5:112552000-112556800	Weak transcription	NH-A	brain
25	chr5:112552000-112557000	Weak transcription	HMEC	breast
26	chr5:112552200-112555000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:112552400-112553800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:112552800-112554800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:112552800-112555400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:112552800-112556800	Weak transcription	NHEK	skin
31	chr5:112552800-112557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:112553000-112560200	Weak transcription	Brain Substantia Nigra	brain
33	chr5:112553200-112554000	Flanking Active TSS	Liver	Liver
34	chr5:112553200-112554200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:112553200-112554200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:112553200-112554200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr5:112553200-112554800	Flanking Active TSS	Fetal Heart	heart
38	chr5:112553200-112555200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:112553200-112555200	Enhancers	Fetal Muscle Leg	muscle
40	chr5:112553200-112555600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:112553200-112555600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:112553200-112555600	Enhancers	Fetal Stomach	stomach
43	chr5:112553200-112555800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:112553200-112555800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:112553400-112553600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:112553400-112553600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:112553400-112553600	Enhancers	Brain Angular Gyrus	brain
48	chr5:112553400-112553600	Flanking Active TSS	Left Ventricle	heart
49	chr5:112553400-112553600	Enhancers	Psoas Muscle	Psoas
50	chr5:112553400-112553600	Enhancers	Right Ventricle	heart

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