Variant report

Variant	rs12597383
Chromosome Location	chr16:82805803-82805804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11646849	0.86[ASN][1000 genomes]
rs12598803	0.86[EUR][1000 genomes]
rs12600161	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs12920400	0.88[ASN][1000 genomes]
rs12924560	0.85[ASN][1000 genomes]
rs12925326	0.88[ASN][1000 genomes]
rs12927253	0.84[ASN][1000 genomes]
rs12932553	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12933198	0.83[ASN][1000 genomes]
rs1350891	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16958619	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2126371	0.84[ASN][1000 genomes]
rs34271157	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34735041	0.88[EUR][1000 genomes]
rs35518553	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36047343	0.88[EUR][1000 genomes]
rs56219641	0.85[ASN][1000 genomes]
rs67501551	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7184763	0.80[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	chr16:82795000-82806000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82795600-82806400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82795800-82810800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82796400-82810000	Weak transcription	HUVEC	blood vessel
7	chr16:82800800-82806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:82801600-82806400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:82802000-82806000	Weak transcription	Aorta	Aorta
10	chr16:82802000-82810400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82803000-82807200	Enhancers	Left Ventricle	heart
12	chr16:82803800-82815600	Weak transcription	HSMM	muscle
13	chr16:82804000-82806600	Weak transcription	HSMMtube	muscle
14	chr16:82804200-82806000	Weak transcription	Brain Angular Gyrus	brain
15	chr16:82804400-82816600	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:82805000-82806200	Enhancers	Right Atrium	heart
17	chr16:82805000-82806200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr16:82805000-82807000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr16:82805000-82811800	Enhancers	Primary B cells from peripheral blood	blood
20	chr16:82805200-82806000	Enhancers	Fetal Muscle Leg	muscle
21	chr16:82805400-82806200	Enhancers	Fetal Heart	heart
22	chr16:82805400-82806200	Enhancers	Psoas Muscle	Psoas
23	chr16:82805400-82807200	Enhancers	HMEC	breast
24	chr16:82805600-82821600	Weak transcription	NHEK	skin
25	chr16:82805800-82806000	Enhancers	Brain Substantia Nigra	brain
26	chr16:82805800-82806800	Enhancers	Right Ventricle	heart
27	chr16:82805800-82807000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:82805800-82807200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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