Variant report

Variant	rs60469279
Chromosome Location	chr12:123268181-123268182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10466883	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10466884	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11059711	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11059724	0.91[ASN][1000 genomes]
rs11059834	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059932	0.92[ASN][1000 genomes]
rs11059953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11059954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298293	0.84[ASN][1000 genomes]
rs12298664	0.84[AFR][1000 genomes]
rs12302287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12303270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12303951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12305822	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12307038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310386	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12310901	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12313538	0.84[ASN][1000 genomes]
rs12313600	0.84[ASN][1000 genomes]
rs12315520	0.84[ASN][1000 genomes]
rs12316263	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12318871	0.84[ASN][1000 genomes]
rs12319160	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12319654	0.89[AFR][1000 genomes]
rs12321100	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12321556	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1260120	0.92[ASN][1000 genomes]
rs1671679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671688	0.92[ASN][1000 genomes]
rs1696320	0.94[ASN][1000 genomes]
rs2253504	0.89[ASN][1000 genomes]
rs2292131	0.89[AFR][1000 genomes]
rs2649902	0.91[ASN][1000 genomes]
rs2936730	0.93[ASN][1000 genomes]
rs3817095	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57366988	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58182048	0.89[AFR][1000 genomes]
rs61176973	0.80[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6489240	0.94[ASN][1000 genomes]
rs652533	0.90[ASN][1000 genomes]
rs701484	0.89[ASN][1000 genomes]
rs7138436	0.88[ASN][1000 genomes]
rs7311386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7486414	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966971	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs839363	0.94[ASN][1000 genomes]
rs9645762	0.89[ASN][1000 genomes]
rs9788290	0.89[AFR][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	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123285800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:123260000-123268400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:123260000-123272600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:123260000-123272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:123260000-123275200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:123260000-123278400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:123260000-123278400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:123260000-123278400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:123260000-123278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:123260200-123268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:123260200-123268600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:123260200-123270400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:123260200-123272400	Weak transcription	HMEC	breast
17	chr12:123260200-123272400	Weak transcription	NHEK	skin
18	chr12:123260200-123272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:123260200-123272800	Weak transcription	Left Ventricle	heart
20	chr12:123260200-123272800	Weak transcription	Osteobl	bone
21	chr12:123260200-123273000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:123260200-123273000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:123260200-123273000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:123260200-123273000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:123260200-123275400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:123260200-123278000	Weak transcription	Fetal Thymus	thymus
27	chr12:123260200-123284000	Weak transcription	Primary B cells from cord blood	blood
28	chr12:123260200-123284000	Weak transcription	Primary T cells from cord blood	blood
29	chr12:123260400-123270400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:123262600-123272800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:123263200-123275000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:123264200-123268400	Weak transcription	Dnd41	blood
33	chr12:123264200-123272800	Weak transcription	HSMM	muscle
34	chr12:123264200-123278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:123264200-123290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:123264600-123278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:123265800-123275000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain

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