Variant report

Variant	rs17064478
Chromosome Location	chr13:76025227-76025228
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	chr13:76010975..76013105-chr13:76023574..76025826,2	K562	blood:
2	chr13:76024363..76026211-chr13:76040160..76042265,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10507830	0.89[ASN][1000 genomes]
rs11618631	0.89[ASN][1000 genomes]
rs11619783	0.89[ASN][1000 genomes]
rs17064454	0.89[ASN][1000 genomes]
rs4576949	0.89[ASN][1000 genomes]
rs7998043	0.89[ASN][1000 genomes]
rs9543936	0.89[ASN][1000 genomes]
rs9573549	0.89[ASN][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:28 , 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	chr13:76021000-76026200	Weak transcription	NHEK	skin
9	chr13:76021200-76026200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:76021200-76026400	Weak transcription	HSMM	muscle
11	chr13:76021200-76026400	Weak transcription	HSMMtube	muscle
12	chr13:76021200-76026800	Weak transcription	Right Atrium	heart
13	chr13:76021400-76026200	Weak transcription	Liver	Liver
14	chr13:76021600-76026200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:76021600-76026800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr13:76021800-76026400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:76021800-76030200	Weak transcription	Fetal Heart	heart
18	chr13:76022000-76027800	Weak transcription	Left Ventricle	heart
19	chr13:76022000-76028200	Weak transcription	Psoas Muscle	Psoas
20	chr13:76022000-76032000	Weak transcription	Ovary	ovary
21	chr13:76022000-76032000	Weak transcription	Right Ventricle	heart
22	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
23	chr13:76022600-76026200	Weak transcription	HepG2	liver
24	chr13:76024800-76025400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:76024800-76025400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:76024800-76025600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr13:76025000-76025400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr13:76025000-76032400	Weak transcription	H1 Cell Line	embryonic stem cell

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