Variant report

Variant	rs17065005
Chromosome Location	chr13:76325972-76325973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12184601	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514560	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030259	0.89[EUR][1000 genomes]
rs61958154	0.82[EUR][1000 genomes]
rs9600546	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9805323	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1091	chr13:76282392-76327906	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
2	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76322400-76334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:76323800-76326200	Enhancers	Fetal Heart	heart
5	chr13:76323800-76336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:76324000-76326000	Genic enhancers	Osteobl	bone
8	chr13:76324000-76330600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:76324000-76330800	Weak transcription	NHLF	lung
10	chr13:76324000-76332200	Weak transcription	HSMMtube	muscle
11	chr13:76324000-76335200	Weak transcription	NH-A	brain
12	chr13:76324200-76334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:76324400-76327000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:76325200-76326000	Enhancers	NHDF-Ad	bronchial
15	chr13:76325200-76326800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:76325200-76328000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:76325200-76328200	Weak transcription	HSMM	muscle
18	chr13:76325200-76335200	Weak transcription	Ovary	ovary
19	chr13:76325600-76326000	Enhancers	Fetal Lung	lung
20	chr13:76325800-76326000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76325800-76326800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:76325800-76327400	Weak transcription	Fetal Brain Male	brain
23	chr13:76325800-76331200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76325800-76333600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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