Variant report

Variant	rs9318349
Chromosome Location	chr13:76061946-76061947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76056190..76058519-chr13:76061605..76064578,2	MCF-7	breast:
2	chr13:76060354..76062055-chr13:76103178..76106915,3	K562	blood:
3	chr13:76055194..76058369-chr13:76060502..76064078,3	K562	blood:
4	chr13:76060096..76062427-chr13:76067449..76070144,3	K562	blood:

Variant related genes	Relation type
ENSG00000136111	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1323691	0.89[JPT][hapmap]
rs1570539	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1570540	0.93[ASN][1000 genomes]
rs1570541	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2328945	0.95[ASN][1000 genomes]
rs2328946	0.95[ASN][1000 genomes]
rs2328947	0.95[ASN][1000 genomes]
rs4142591	0.95[ASN][1000 genomes]
rs60343330	0.94[ASN][1000 genomes]
rs6562896	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7318786	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7989804	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9543946	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9543947	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9565165	0.83[ASN][1000 genomes]
rs9565168	0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9565169	0.81[EUR][1000 genomes]
rs9565170	0.96[ASN][1000 genomes]
rs9573566	0.94[ASN][1000 genomes]
rs9573567	0.94[ASN][1000 genomes]
rs9573570	1.00[CEU][hapmap];0.81[CHB][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9573571	0.95[ASN][1000 genomes]
rs961631	0.95[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76057000-76063400	Weak transcription	Hela-S3	cervix
2	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:76057200-76062000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:76057200-76063400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:76057200-76063400	Weak transcription	Adipose Nuclei	Adipose
6	chr13:76057400-76063600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:76058600-76063600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:76059000-76062000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:76059200-76062000	Enhancers	HepG2	liver
10	chr13:76060600-76062200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:76060600-76063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:76060600-76063400	Weak transcription	NHEK	skin
13	chr13:76060600-76063600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:76060600-76063600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:76060600-76063600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:76060600-76063600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:76060600-76063600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:76060600-76063600	Weak transcription	Pancreas	Pancrea
19	chr13:76060600-76063600	Weak transcription	Right Atrium	heart
20	chr13:76060600-76063800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:76060600-76063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:76060600-76069400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:76060800-76063400	Weak transcription	NH-A	brain
24	chr13:76061000-76063400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr13:76061200-76063400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr13:76061200-76063400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:76061200-76063400	Weak transcription	GM12878-XiMat	blood
28	chr13:76061200-76063600	Weak transcription	HSMM	muscle
29	chr13:76061200-76063800	Weak transcription	HSMMtube	muscle
30	chr13:76061400-76062000	Enhancers	Liver	Liver
31	chr13:76061400-76062000	Enhancers	Osteobl	bone
32	chr13:76061400-76063400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr13:76061600-76063400	Weak transcription	HMEC	breast
34	chr13:76061600-76063600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:76061600-76063800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:76061800-76062000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:76061800-76063400	Weak transcription	A549	lung

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