Variant report

Variant	rs2062494
Chromosome Location	chr12:106587219-106587220
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11112902	1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11112903	1.00[JPT][hapmap]
rs1215611	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1215612	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1318909	1.00[ASN][1000 genomes]
rs1318910	1.00[ASN][1000 genomes]
rs1427789	1.00[ASN][1000 genomes]
rs1427790	1.00[ASN][1000 genomes]
rs2047546	1.00[ASN][1000 genomes]
rs2059770	1.00[ASN][1000 genomes]
rs7959267	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2062494	EID3	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106583200-106588400	Weak transcription	HepG2	liver
2	chr12:106583600-106589600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:106585200-106589200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:106585200-106589200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr12:106585400-106589400	Weak transcription	Fetal Kidney	kidney
6	chr12:106585800-106590600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:106586200-106589000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:106586400-106588800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:106586800-106588000	Enhancers	Brain Substantia Nigra	brain
10	chr12:106586800-106588400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:106586800-106589000	Enhancers	NHDF-Ad	bronchial
12	chr12:106587000-106587400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:106587000-106587400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:106587000-106587400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:106587000-106587400	Enhancers	Psoas Muscle	Psoas
16	chr12:106587000-106587800	Enhancers	Brain Anterior Caudate	brain
17	chr12:106587000-106587800	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:106587000-106589800	Enhancers	Ovary	ovary
19	chr12:106587000-106590400	Enhancers	Adipose Nuclei	Adipose
20	chr12:106587000-106590800	Enhancers	Brain Hippocampus Middle	brain
21	chr12:106587200-106587400	Enhancers	Brain Angular Gyrus	brain
22	chr12:106587200-106587400	Enhancers	Stomach Smooth Muscle	stomach
23	chr12:106587200-106587800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:106587200-106587800	Enhancers	Fetal Muscle Trunk	muscle
25	chr12:106587200-106587800	Enhancers	Left Ventricle	heart
26	chr12:106587200-106587800	Enhancers	Lung	lung
27	chr12:106587200-106590800	Enhancers	Liver	Liver

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