Variant report

Variant	rs8058974
Chromosome Location	chr16:82806607-82806608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11640522	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11642248	0.81[AMR][1000 genomes]
rs11643292	0.81[AMR][1000 genomes]
rs1462046	0.81[ASN][1000 genomes]
rs1462049	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17192152	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17276586	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17277145	0.84[ASN][1000 genomes]
rs1903617	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4783270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55844042	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61037133	0.83[ASN][1000 genomes]
rs62034546	0.84[AMR][1000 genomes]
rs62034548	0.82[AMR][1000 genomes]
rs72805944	0.83[AMR][1000 genomes]
rs8043851	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8044955	0.83[EUR][1000 genomes]
rs8060885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
14	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82790200-82810400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82793000-82815200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:82795800-82810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82796400-82810000	Weak transcription	HUVEC	blood vessel
5	chr16:82802000-82810400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:82803000-82807200	Enhancers	Left Ventricle	heart
7	chr16:82803800-82815600	Weak transcription	HSMM	muscle
8	chr16:82804400-82816600	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:82805000-82807000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:82805000-82811800	Enhancers	Primary B cells from peripheral blood	blood
11	chr16:82805400-82807200	Enhancers	HMEC	breast
12	chr16:82805600-82821600	Weak transcription	NHEK	skin
13	chr16:82805800-82806800	Enhancers	Right Ventricle	heart
14	chr16:82805800-82807000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr16:82805800-82807200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:82806000-82807200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr16:82806000-82807200	Enhancers	Brain Angular Gyrus	brain
18	chr16:82806000-82813800	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:82806200-82807000	Weak transcription	Fetal Heart	heart
20	chr16:82806200-82807200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:82806200-82811000	Weak transcription	Psoas Muscle	Psoas
22	chr16:82806200-82812800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:82806400-82806800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:82806400-82807200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:82806400-82807200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:82806600-82806800	Enhancers	Aorta	Aorta
27	chr16:82806600-82807000	Enhancers	HSMMtube	muscle
28	chr16:82806600-82807200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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