Variant report

Variant	rs12930993
Chromosome Location	chr16:75894212-75894213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11149860	0.83[ASN][1000 genomes]
rs4563059	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv3416058	chr16:75863360-76086224	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75893200-75894400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr16:75893200-75894800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:75894000-75894400	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr16:75894000-75894400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr16:75894000-75894400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr16:75894000-75894600	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr16:75894000-75894800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:75894000-75894800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr16:75894000-75895000	Enhancers	Fetal Stomach	stomach
10	chr16:75894200-75894400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:75894200-75894400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:75894200-75894400	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr16:75894200-75894400	Active TSS	Brain Substantia Nigra	brain
14	chr16:75894200-75894400	Bivalent Enhancer	HepG2	liver
15	chr16:75894200-75894600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr16:75894200-75894800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:75894200-75894800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:75894200-75894800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:75894200-75894800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:75894200-75894800	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr16:75894200-75894800	Flanking Active TSS	Fetal Brain Male	brain
22	chr16:75894200-75894800	Enhancers	Fetal Lung	lung
23	chr16:75894200-75895000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr16:75894200-75895000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:75894200-75895200	Flanking Active TSS	Fetal Brain Female	brain

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