Variant report

Variant	rs12446636
Chromosome Location	chr16:82746002-82746003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1462039	1.00[CHB][hapmap]
rs17741493	1.00[CHB][hapmap]
rs62036341	0.92[ASN][1000 genomes]
rs62036343	0.96[ASN][1000 genomes]
rs62036345	0.96[ASN][1000 genomes]
rs62036346	0.96[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	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
7	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
8	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
9	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
10	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
11	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
12	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82733400-82746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr16:82735400-82762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:82736000-82746800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr16:82736000-82748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:82737200-82746400	Weak transcription	Right Ventricle	heart
6	chr16:82737600-82763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82738000-82746800	Weak transcription	HUVEC	blood vessel
8	chr16:82738200-82746800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr16:82741800-82749600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:82741800-82750000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:82742000-82746600	Weak transcription	Psoas Muscle	Psoas
12	chr16:82742600-82748200	Weak transcription	NHEK	skin
13	chr16:82743400-82749400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:82744200-82746400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:82744400-82748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:82744600-82746600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:82744600-82747200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:82744800-82747200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:82745200-82747200	Strong transcription	HSMMtube	muscle
20	chr16:82745400-82746200	Weak transcription	Left Ventricle	heart
21	chr16:82745400-82746600	Weak transcription	Lung	lung
22	chr16:82745400-82748800	Weak transcription	Aorta	Aorta
23	chr16:82745600-82746600	Weak transcription	Fetal Heart	heart
24	chr16:82745600-82747000	Weak transcription	Right Atrium	heart
25	chr16:82745600-82749400	Weak transcription	HSMM	muscle
26	chr16:82746000-82746200	Enhancers	Fetal Intestine Small	intestine
27	chr16:82746000-82746400	Strong transcription	NH-A	brain
28	chr16:82746000-82761000	Weak transcription	HMEC	breast

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