Variant report

Variant	rs17481479
Chromosome Location	chr5:124887225-124887226
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10039024	1.00[ASN][1000 genomes]
rs10065912	1.00[ASN][1000 genomes]
rs13353869	1.00[ASN][1000 genomes]
rs2637510	1.00[ASN][1000 genomes]
rs34562852	1.00[ASN][1000 genomes]
rs6875251	1.00[ASN][1000 genomes]
rs72786821	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv882827	chr5:124867823-124943901	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882828	chr5:124867823-124958205	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124883200-124887600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:124884200-124895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:124884800-124887400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:124884800-124889000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:124884800-124889000	Enhancers	NHLF	lung
6	chr5:124885000-124887400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:124885000-124887400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:124885200-124887400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:124885200-124887400	Enhancers	NH-A	brain
10	chr5:124885200-124887800	Enhancers	NHDF-Ad	bronchial
11	chr5:124885200-124888200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:124885800-124889000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:124885800-124889000	Enhancers	HUVEC	blood vessel
14	chr5:124886000-124887400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:124886000-124889200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:124886200-124887400	Enhancers	Colonic Mucosa	Colon
17	chr5:124886400-124888000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:124886400-124888400	Weak transcription	Osteobl	bone
19	chr5:124886800-124887400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:124887000-124887400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr5:124887000-124887800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:124887200-124887400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:124887200-124887400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:124887200-124887400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:124887200-124887400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:124887200-124887400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:124887200-124887400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:124887200-124887400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:124887200-124887400	Enhancers	Fetal Lung	lung
30	chr5:124887200-124887400	Enhancers	Fetal Muscle Leg	muscle
31	chr5:124887200-124887400	Enhancers	Fetal Stomach	stomach
32	chr5:124887200-124887400	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr5:124887200-124887800	Weak transcription	Fetal Kidney	kidney
34	chr5:124887200-124888600	Enhancers	HSMM	muscle

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