Variant report

Variant	rs60920224
Chromosome Location	chr12:106141669-106141670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106128999..106131037-chr12:106139408..106142036,2	MCF-7	breast:
2	chr12:106139826..106141711-chr12:106144259..106146850,2	MCF-7	breast:
3	chr12:106133184..106135047-chr12:106140177..106142971,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2374545	0.80[AFR][1000 genomes]
rs55701064	0.83[AMR][1000 genomes]
rs55712943	0.83[AMR][1000 genomes]
rs55714319	0.83[AMR][1000 genomes]
rs55991033	0.83[AMR][1000 genomes]
rs56122277	0.83[AMR][1000 genomes]
rs58507825	0.83[AMR][1000 genomes]
rs60038102	1.00[AMR][1000 genomes]
rs73397326	0.83[AMR][1000 genomes]
rs73397340	0.83[AMR][1000 genomes]
rs73397341	0.83[AMR][1000 genomes]
rs73397343	0.83[AMR][1000 genomes]
rs73397345	0.83[AMR][1000 genomes]
rs73397346	0.83[AMR][1000 genomes]
rs73397349	0.83[AMR][1000 genomes]
rs73397350	0.83[AMR][1000 genomes]
rs73397351	0.83[AMR][1000 genomes]
rs73397353	0.83[AMR][1000 genomes]
rs73397356	0.83[AMR][1000 genomes]
rs73397357	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106135400-106142400	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:106136000-106142200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:106136000-106142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:106136600-106142200	Weak transcription	Aorta	Aorta
5	chr12:106136600-106142200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:106136600-106142200	Weak transcription	Ovary	ovary
7	chr12:106136600-106142400	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:106136800-106142400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:106137200-106142600	Weak transcription	Fetal Brain Female	brain
10	chr12:106138400-106142800	Weak transcription	Fetal Brain Male	brain
11	chr12:106139000-106144600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:106139400-106142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:106139400-106142200	Weak transcription	HSMM	muscle
14	chr12:106139400-106142400	Weak transcription	HMEC	breast
15	chr12:106139400-106147200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:106140600-106142200	Weak transcription	Esophagus	oesophagus
17	chr12:106141400-106143400	Enhancers	Right Atrium	heart
18	chr12:106141600-106141800	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:106141600-106142000	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:106141600-106143000	Enhancers	Lung	lung
21	chr12:106141600-106143000	Enhancers	Right Ventricle	heart
22	chr12:106141600-106143400	Enhancers	Left Ventricle	heart
23	chr12:106141600-106144000	Enhancers	NH-A	brain
24	chr12:106141600-106144200	Enhancers	HSMMtube	muscle

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