Variant report

Variant	rs12317738
Chromosome Location	chr12:106588819-106588820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12300083	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12306616	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17038111	1.00[GIH][hapmap]
rs2068146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58749698	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6539250	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs7961208	0.91[ASN][1000 genomes]
rs7965127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7979970	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7980872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]

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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106583600-106589600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:106585200-106589200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:106585200-106589200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:106585400-106589400	Weak transcription	Fetal Kidney	kidney
5	chr12:106585800-106590600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:106586200-106589000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:106586800-106589000	Enhancers	NHDF-Ad	bronchial
8	chr12:106587000-106589800	Enhancers	Ovary	ovary
9	chr12:106587000-106590400	Enhancers	Adipose Nuclei	Adipose
10	chr12:106587000-106590800	Enhancers	Brain Hippocampus Middle	brain
11	chr12:106587200-106590800	Enhancers	Liver	Liver
12	chr12:106587400-106589000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:106587800-106589000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:106587800-106589000	Weak transcription	Osteobl	bone
15	chr12:106587800-106589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:106587800-106589200	Weak transcription	Left Ventricle	heart
17	chr12:106587800-106589200	Weak transcription	Lung	lung
18	chr12:106587800-106589400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:106587800-106589600	Enhancers	Colon Smooth Muscle	Colon
20	chr12:106588000-106589000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:106588200-106590400	Enhancers	Stomach Smooth Muscle	stomach
22	chr12:106588400-106589000	Weak transcription	Fetal Muscle Leg	muscle
23	chr12:106588400-106589800	Enhancers	Psoas Muscle	Psoas
24	chr12:106588400-106590000	Enhancers	Fetal Heart	heart
25	chr12:106588400-106590400	Enhancers	Brain Substantia Nigra	brain
26	chr12:106588400-106591200	Enhancers	HepG2	liver
27	chr12:106588800-106589000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:106588800-106589000	Enhancers	Gastric	stomach
29	chr12:106588800-106589800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:106588800-106589800	Enhancers	Brain Anterior Caudate	brain
31	chr12:106588800-106589800	Enhancers	Right Atrium	heart
32	chr12:106588800-106590000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:106588800-106590000	Enhancers	Fetal Lung	lung
34	chr12:106588800-106590000	Enhancers	HSMM	muscle
35	chr12:106588800-106590000	Enhancers	HSMMtube	muscle

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