Variant report

Variant	rs12051272
Chromosome Location	chr16:82663288-82663289
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10871434	0.86[ASN][1000 genomes]
rs12051213	0.98[ASN][1000 genomes]
rs12444338	0.93[ASN][1000 genomes]
rs12596316	0.81[ASN][1000 genomes]
rs12598679	0.90[ASN][1000 genomes]
rs16957889	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239857	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28597883	0.87[ASN][1000 genomes]
rs35666337	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3865188	0.90[ASN][1000 genomes]
rs4597315	0.91[ASN][1000 genomes]
rs4783241	0.90[ASN][1000 genomes]
rs4783244	0.95[ASN][1000 genomes]
rs7202931	0.96[ASN][1000 genomes]
rs8051657	0.94[ASN][1000 genomes]
rs8060301	0.95[ASN][1000 genomes]
rs8062260	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9925671	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	nsv1062787	chr16:82601618-82676019	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv542998	chr16:82601618-82676019	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Adiponectin levels	22479202	GWAS catalog
Adiponectin levels	22065538	GWAS catalog

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82660200-82663800	Active TSS	Aorta	Aorta
2	chr16:82661600-82663400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr16:82661600-82663400	Flanking Active TSS	Hela-S3	cervix
4	chr16:82661600-82664000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:82661600-82664400	Flanking Active TSS	HUVEC	blood vessel
6	chr16:82661800-82663400	Enhancers	Esophagus	oesophagus
7	chr16:82661800-82663400	Flanking Active TSS	NHDF-Ad	bronchial
8	chr16:82661800-82664400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr16:82661800-82664400	Flanking Active TSS	NH-A	brain
10	chr16:82661800-82664400	Flanking Active TSS	Osteobl	bone
11	chr16:82662000-82663400	Flanking Active TSS	HSMMtube	muscle
12	chr16:82662000-82664000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:82662000-82664200	Flanking Active TSS	HMEC	breast
14	chr16:82662000-82664600	Flanking Active TSS	NHEK	skin
15	chr16:82662200-82663400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr16:82662200-82663600	Flanking Active TSS	HSMM	muscle
17	chr16:82662200-82666200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr16:82662400-82663400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:82662400-82664000	Enhancers	Left Ventricle	heart
20	chr16:82662400-82664000	Enhancers	Right Atrium	heart
21	chr16:82662400-82666000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr16:82662600-82663800	Enhancers	Rectal Smooth Muscle	rectum
23	chr16:82662600-82664200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr16:82662600-82665800	Enhancers	Fetal Heart	heart
25	chr16:82662600-82666200	Enhancers	NHLF	lung
26	chr16:82662600-82669600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:82662800-82663400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr16:82662800-82663400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr16:82662800-82663600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr16:82662800-82664000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:82662800-82664200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr16:82662800-82667600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:82662800-82667600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:82662800-82668800	Enhancers	Fetal Muscle Leg	muscle
35	chr16:82663000-82663400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:82663000-82663600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr16:82663000-82663800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:82663000-82663800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
39	chr16:82663000-82663800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:82663000-82664000	Enhancers	Psoas Muscle	Psoas
41	chr16:82663000-82664400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr16:82663000-82665000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:82663000-82665200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:82663000-82665400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:82663200-82663400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:82663200-82663400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:82663200-82663600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr16:82663200-82663800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr16:82663200-82663800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:82663200-82664000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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