Variant report

Variant	rs17064485
Chromosome Location	chr13:76026736-76026737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17257170	0.99[EUR][1000 genomes]
rs2328942	0.82[AMR][1000 genomes]
rs4883999	0.92[CEU][hapmap];0.84[MEX][hapmap]
rs56266917	0.99[EUR][1000 genomes]
rs7335576	0.92[CEU][hapmap];0.89[MEX][hapmap]
rs9573555	0.92[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76007400-76032000	Weak transcription	Gastric	stomach
2	chr13:76012000-76033000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:76012800-76036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:76017800-76033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
6	chr13:76020400-76030200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:76020400-76054400	Weak transcription	A549	lung
8	chr13:76021200-76026800	Weak transcription	Right Atrium	heart
9	chr13:76021600-76026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:76021800-76030200	Weak transcription	Fetal Heart	heart
11	chr13:76022000-76027800	Weak transcription	Left Ventricle	heart
12	chr13:76022000-76028200	Weak transcription	Psoas Muscle	Psoas
13	chr13:76022000-76032000	Weak transcription	Ovary	ovary
14	chr13:76022000-76032000	Weak transcription	Right Ventricle	heart
15	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
16	chr13:76025000-76032400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:76025400-76030600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr13:76025400-76033000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:76026000-76026800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:76026200-76027000	Enhancers	HepG2	liver
21	chr13:76026200-76027200	Enhancers	Hela-S3	cervix
22	chr13:76026200-76028400	Enhancers	NHEK	skin
23	chr13:76026400-76026800	Enhancers	HSMM	muscle
24	chr13:76026400-76027000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr13:76026400-76027000	Active TSS	Liver	Liver
26	chr13:76026400-76027000	Enhancers	Fetal Kidney	kidney
27	chr13:76026400-76027000	Enhancers	HSMMtube	muscle
28	chr13:76026400-76027200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:76026400-76027200	Enhancers	Osteobl	bone
30	chr13:76026400-76030800	Enhancers	HMEC	breast
31	chr13:76026400-76031000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:76026600-76026800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:76026600-76027000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:76026600-76027200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:76026600-76027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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