Variant report

Variant	rs7717494
Chromosome Location	chr5:112503527-112503528
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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10057729	0.84[EUR][1000 genomes]
rs11952815	0.95[EUR][1000 genomes]
rs1345077	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1345078	0.82[ASN][1000 genomes]
rs1348433	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17135364	0.81[EUR][1000 genomes]
rs2044241	0.86[ASN][1000 genomes]
rs4705802	0.81[ASN][1000 genomes]
rs55917784	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6891544	0.83[ASN][1000 genomes]
rs7718971	0.81[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:54 , 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	chr5:112499400-112506400	Weak transcription	Adipose Nuclei	Adipose
9	chr5:112500000-112507000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:112500800-112506000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:112500800-112513800	Weak transcription	Lung	lung
12	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:112501000-112504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:112501000-112504400	Weak transcription	Esophagus	oesophagus
15	chr5:112501200-112504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:112501400-112503800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:112501400-112504800	Weak transcription	Stomach Mucosa	stomach
18	chr5:112501400-112505200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:112501800-112506200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:112502000-112504000	Enhancers	HSMM	muscle
21	chr5:112502000-112507000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:112502400-112504000	Enhancers	HUVEC	blood vessel
23	chr5:112502400-112504200	Flanking Active TSS	NHEK	skin
24	chr5:112502400-112504800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:112502600-112503600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:112502600-112503800	Enhancers	Left Ventricle	heart
27	chr5:112502600-112504000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:112502800-112503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:112502800-112503600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:112502800-112504600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:112503000-112503600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:112503000-112503600	Enhancers	Right Ventricle	heart
33	chr5:112503000-112504200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:112503000-112504400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:112503000-112504600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:112503000-112504600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:112503000-112504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:112503000-112505000	Weak transcription	Right Atrium	heart
39	chr5:112503000-112513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:112503200-112503600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr5:112503200-112503600	Weak transcription	Fetal Lung	lung
42	chr5:112503200-112503600	Enhancers	HMEC	breast
43	chr5:112503200-112503600	Enhancers	Osteobl	bone
44	chr5:112503200-112503800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:112503200-112504000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:112503200-112504200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:112503200-112504400	Enhancers	NH-A	brain
48	chr5:112503200-112504800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:112503200-112504800	Weak transcription	Liver	Liver
50	chr5:112503200-112504800	Weak transcription	Fetal Heart	heart

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