Variant report

Variant	rs11619593
Chromosome Location	chr13:49482919-49482920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73184627	1.00[AFR][1000 genomes]
rs9526512	1.00[AFR][1000 genomes]
rs9535151	1.00[AFR][1000 genomes]
rs9535152	1.00[AFR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832606	chr13:49352212-49506009	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49466000-49483200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:49478200-49483000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:49479400-49484600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr13:49479800-49484600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:49482000-49483600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:49482400-49483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:49482400-49483200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:49482400-49483400	Enhancers	HMEC	breast
9	chr13:49482400-49484000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:49482600-49483000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49482600-49483000	Flanking Active TSS	A549	lung
12	chr13:49482600-49483200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:49482600-49483200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:49482600-49483400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:49482600-49483400	Enhancers	Stomach Mucosa	stomach
16	chr13:49482600-49483600	Enhancers	NHEK	skin
17	chr13:49482600-49483800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:49482800-49483000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr13:49482800-49483200	Active TSS	NHDF-Ad	bronchial
20	chr13:49482800-49483400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr13:49482800-49483400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:49482800-49483400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:49482800-49483400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:49482800-49483400	Enhancers	Osteobl	bone
25	chr13:49482800-49483600	Flanking Active TSS	Hela-S3	cervix
26	chr13:49482800-49483800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:49482800-49483800	Enhancers	Aorta	Aorta

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