Variant report

Variant	rs1133392
Chromosome Location	chr5:108523293-108523294
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17450296	1.00[JPT][hapmap]
rs17450476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17450497	0.85[ASN][1000 genomes]
rs17450525	0.87[ASN][1000 genomes]
rs17450560	0.85[ASN][1000 genomes]
rs17450567	0.85[ASN][1000 genomes]
rs17534668	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17534807	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17534957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3797846	0.82[ASN][1000 genomes]
rs3814066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs58513967	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7715602	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][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	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1792067	chr5:108521224-108542526	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
2	chr5:108496000-108532800	Weak transcription	Ovary	ovary
3	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
4	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
6	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
7	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
8	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:108514800-108525400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:108515200-108527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:108517200-108523400	Weak transcription	Thymus	Thymus
12	chr5:108517200-108533000	Weak transcription	Fetal Kidney	kidney
13	chr5:108517400-108523400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:108517400-108527600	Weak transcription	Fetal Intestine Small	intestine
15	chr5:108518800-108526400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:108519200-108526200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:108519400-108525400	Weak transcription	Right Ventricle	heart
18	chr5:108520000-108526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:108520200-108523400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:108520200-108527200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:108520400-108523400	Weak transcription	Osteobl	bone
22	chr5:108520400-108527000	Weak transcription	Small Intestine	intestine
23	chr5:108520600-108523400	Weak transcription	GM12878-XiMat	blood
24	chr5:108520600-108523600	Weak transcription	Fetal Intestine Large	intestine
25	chr5:108520600-108526400	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:108520600-108526800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:108520600-108526800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:108520600-108530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:108520800-108523400	Weak transcription	Gastric	stomach
30	chr5:108520800-108527600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:108521000-108523400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr5:108521200-108528400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:108521400-108524200	Weak transcription	Spleen	Spleen
34	chr5:108521400-108524800	Strong transcription	Dnd41	blood
35	chr5:108521400-108525000	Strong transcription	Adipose Nuclei	Adipose
36	chr5:108521400-108525600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:108521400-108528200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:108521600-108524200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:108521600-108524200	Strong transcription	Brain Anterior Caudate	brain
40	chr5:108521600-108524200	Weak transcription	Placenta	Placenta
41	chr5:108521600-108524400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:108521600-108524800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr5:108521600-108525000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:108521600-108527000	Weak transcription	NH-A	brain
45	chr5:108521800-108523800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:108521800-108523800	Strong transcription	Fetal Lung	lung
47	chr5:108521800-108523800	Strong transcription	HepG2	liver
48	chr5:108521800-108524000	Strong transcription	Primary T cells from cord blood	blood
49	chr5:108521800-108524200	Strong transcription	Lung	lung
50	chr5:108521800-108524400	Strong transcription	Rectal Mucosa Donor 29	rectum

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