Variant report

Variant	rs73281012
Chromosome Location	chr14:69300464-69300465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11847206	1.00[EUR][1000 genomes]
rs194738	0.87[EUR][1000 genomes]
rs194745	1.00[EUR][1000 genomes]
rs55753128	1.00[EUR][1000 genomes]
rs59647223	1.00[EUR][1000 genomes]
rs73279175	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8008250	1.00[EUR][1000 genomes]
rs9743642	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69284200-69305600	Weak transcription	HSMMtube	muscle
2	chr14:69287200-69302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:69288200-69304400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:69290200-69302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:69290200-69302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:69290200-69307200	Weak transcription	HMEC	breast
7	chr14:69291200-69304800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:69291600-69302200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:69291600-69302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:69291800-69304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:69292000-69300600	Weak transcription	HSMM	muscle
12	chr14:69292000-69301200	Weak transcription	NH-A	brain
13	chr14:69296000-69304200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:69300200-69303000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:69300400-69304000	Weak transcription	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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