Variant report

Variant	rs11060180
Chromosome Location	chr12:123303586-123303587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11060112	1.00[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap]
rs11060212	0.84[ASN][1000 genomes]
rs2292137	0.92[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Parkinson's disease	25064009	GWAS catalog

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:123286600-123303600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:123289200-123303800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:123290600-123310400	Weak transcription	Aorta	Aorta
10	chr12:123291800-123304800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:123296400-123310200	Weak transcription	Fetal Intestine Small	intestine
12	chr12:123298000-123303600	Weak transcription	Fetal Brain Female	brain
13	chr12:123298000-123310600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:123298400-123310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:123299600-123310600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:123301000-123303800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:123301200-123304000	Weak transcription	Primary B cells from cord blood	blood
18	chr12:123302200-123306000	Enhancers	Fetal Brain Male	brain
19	chr12:123302200-123312000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:123302600-123310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:123303000-123304000	Enhancers	HepG2	liver
22	chr12:123303400-123303600	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr12:123303400-123304400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:123303400-123304600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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