Variant report

Variant	rs74030845
Chromosome Location	chr16:82793701-82793702
allele	A/G
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:13)

rs_ID	r²[population]
rs56025748	0.81[AFR][1000 genomes]
rs57333430	0.90[AFR][1000 genomes]
rs74028290	0.90[AFR][1000 genomes]
rs74030813	1.00[AFR][1000 genomes]
rs74030814	1.00[AFR][1000 genomes]
rs74030816	1.00[AFR][1000 genomes]
rs74030817	1.00[AFR][1000 genomes]
rs74030819	1.00[AFR][1000 genomes]
rs74030834	1.00[AFR][1000 genomes]
rs74030835	1.00[AFR][1000 genomes]
rs74030836	1.00[AFR][1000 genomes]
rs74030837	1.00[AFR][1000 genomes]
rs74030839	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
10	nsv907026	chr16:82765607-82812853	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1066132	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv543001	chr16:82769526-82847359	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1055547	chr16:82784440-82801892	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2761928	chr16:82784440-82806653	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv573381	chr16:82784943-82805384	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82785200-82794200	Weak transcription	Lung	lung
2	chr16:82786800-82793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr16:82787800-82794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:82790200-82794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:82790200-82795000	Weak transcription	NHLF	lung
6	chr16:82790200-82795200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:82790200-82810400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:82790400-82793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82790400-82793800	Weak transcription	Fetal Heart	heart
10	chr16:82790400-82794400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:82790400-82794400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:82790400-82794400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:82790400-82794600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:82790400-82794800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:82790400-82795000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:82790800-82793800	Weak transcription	Osteobl	bone
17	chr16:82790800-82794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:82790800-82794200	Weak transcription	Left Ventricle	heart
19	chr16:82790800-82794200	Weak transcription	Right Atrium	heart
20	chr16:82790800-82794200	Weak transcription	Right Ventricle	heart
21	chr16:82790800-82794400	Weak transcription	NH-A	brain
22	chr16:82790800-82795000	Weak transcription	Adipose Nuclei	Adipose
23	chr16:82791000-82794200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr16:82791000-82794400	Weak transcription	Aorta	Aorta
25	chr16:82791200-82793800	Weak transcription	NHEK	skin
26	chr16:82791200-82794200	Weak transcription	HSMMtube	muscle
27	chr16:82791800-82794200	Weak transcription	HSMM	muscle
28	chr16:82792200-82794200	Weak transcription	Psoas Muscle	Psoas
29	chr16:82792200-82795000	Enhancers	HUVEC	blood vessel
30	chr16:82792800-82793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:82792800-82794200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:82793000-82794800	Weak transcription	NHDF-Ad	bronchial
33	chr16:82793000-82815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr16:82793600-82795200	Enhancers	Muscle Satellite Cultured Cells	--

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