Variant report

Variant	rs17064454
Chromosome Location	chr13:76006550-76006551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76006248..76008169-chr13:76054948..76056743,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136111	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10507830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148993	1.00[CHB][hapmap]
rs11618631	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11619783	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17064478	0.89[ASN][1000 genomes]
rs2031505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2031506	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2146981	1.00[CHB][hapmap]
rs4340196	1.00[JPT][hapmap]
rs4576949	1.00[ASN][1000 genomes]
rs4885295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4885298	1.00[CHB][hapmap]
rs7321494	1.00[JPT][hapmap]
rs7998043	1.00[ASN][1000 genomes]
rs9543936	1.00[ASN][1000 genomes]
rs9573549	1.00[ASN][1000 genomes]
rs9593081	1.00[CHB][hapmap]

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	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75993600-76006800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:75993600-76006800	Weak transcription	Hela-S3	cervix
3	chr13:75993600-76011200	Weak transcription	Fetal Lung	lung
4	chr13:76000600-76011200	Weak transcription	K562	blood
5	chr13:76001800-76007800	Enhancers	Fetal Heart	heart
6	chr13:76002200-76007800	Enhancers	HepG2	liver
7	chr13:76003200-76007200	Weak transcription	Esophagus	oesophagus
8	chr13:76004000-76007000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:76004200-76007400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:76004600-76007400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:76005200-76007200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:76005200-76007400	Enhancers	Adipose Nuclei	Adipose
13	chr13:76005200-76014800	Weak transcription	Left Ventricle	heart
14	chr13:76005200-76017200	Weak transcription	Pancreas	Pancrea
15	chr13:76005200-76017600	Weak transcription	Right Atrium	heart
16	chr13:76005400-76006800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:76005600-76006800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:76005800-76006800	Weak transcription	Ovary	ovary
19	chr13:76005800-76007400	Enhancers	NHDF-Ad	bronchial
20	chr13:76006000-76007600	Enhancers	A549	lung
21	chr13:76006200-76006600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr13:76006200-76007400	Enhancers	Psoas Muscle	Psoas
23	chr13:76006200-76007600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:76006200-76007600	Enhancers	Right Ventricle	heart
25	chr13:76006200-76011600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:76006400-76006600	Enhancers	Lung	lung
27	chr13:76006400-76006800	Enhancers	HMEC	breast
28	chr13:76006400-76007400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:76006400-76007400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr13:76006400-76007400	Enhancers	Gastric	stomach
31	chr13:76006400-76007400	Enhancers	NHEK	skin
32	chr13:76006400-76007400	Enhancers	NHLF	lung
33	chr13:76006400-76007600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr13:76006400-76007600	Enhancers	Skeletal Muscle Female	skeletal muscle

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