Variant report

Variant	rs72794193
Chromosome Location	chr16:83066624-83066625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56184188	0.81[ASN][1000 genomes]
rs7189859	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72794197	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794198	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72794199	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8061142	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1063617	chr16:82786803-83229529	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1903	chr16:83035452-83080314	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv949450	chr16:83044981-83099707	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv573385	chr16:83059913-83080502	Enhancers Strong transcription Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83047600-83067200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr16:83057400-83068400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:83058800-83070200	Weak transcription	Psoas Muscle	Psoas
4	chr16:83060600-83073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:83063800-83067200	Weak transcription	Right Ventricle	heart
6	chr16:83064000-83067200	Weak transcription	Left Ventricle	heart
7	chr16:83064400-83069400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:83064600-83073200	Weak transcription	HMEC	breast
9	chr16:83064800-83067200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr16:83065200-83067800	Strong transcription	Aorta	Aorta
11	chr16:83065200-83069000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83065200-83070400	Strong transcription	HSMM	muscle
13	chr16:83065400-83071600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:83065600-83070000	Weak transcription	Lung	lung
15	chr16:83065600-83070400	Strong transcription	NHEK	skin
16	chr16:83065800-83070000	Weak transcription	Right Atrium	heart
17	chr16:83066000-83067000	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:83066000-83069000	Strong transcription	HSMMtube	muscle
19	chr16:83066200-83067200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:83066600-83069000	Weak transcription	Fetal Muscle Trunk	muscle

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