Variant report

Variant	rs73342103
Chromosome Location	chr14:81333383-81333384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12586298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587252	0.94[ASN][1000 genomes]
rs12588700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588767	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17111140	0.95[EUR][1000 genomes]
rs17111154	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35654991	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55956216	0.94[ASN][1000 genomes]
rs58900495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59549907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7144235	0.81[ASN][1000 genomes]
rs7144462	0.87[ASN][1000 genomes]
rs73338175	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73338184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73338192	0.94[ASN][1000 genomes]
rs73338195	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73340185	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73344084	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73344651	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73344656	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73344662	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73344664	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:81316600-81338800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:81317800-81333400	Weak transcription	Psoas Muscle	Psoas
4	chr14:81317800-81334400	Weak transcription	A549	lung
5	chr14:81321600-81382200	Weak transcription	Left Ventricle	heart
6	chr14:81323800-81333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:81326200-81336400	Weak transcription	NHDF-Ad	bronchial
8	chr14:81326600-81339800	Weak transcription	Fetal Thymus	thymus
9	chr14:81327000-81333800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:81327800-81333400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:81329200-81359400	Weak transcription	HSMM	muscle
12	chr14:81330400-81350600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:81330800-81334000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:81331200-81344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:81331400-81333600	Strong transcription	Dnd41	blood
16	chr14:81332600-81344400	Weak transcription	Ovary	ovary
17	chr14:81332600-81345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:81332800-81337800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:81332800-81344000	Weak transcription	Thymus	Thymus
20	chr14:81333000-81333400	Weak transcription	Fetal Stomach	stomach
21	chr14:81333000-81333600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:81333000-81334200	Enhancers	HMEC	breast
23	chr14:81333000-81344600	Weak transcription	Aorta	Aorta
24	chr14:81333200-81334000	Enhancers	NHEK	skin

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