Variant report

Variant	rs12299915
Chromosome Location	chr12:106315895-106315896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106254674..106256372-chr12:106314375..106316199,2	MCF-7	breast:
2	chr12:106315778..106318266-chr12:106327212..106330143,3	MCF-7	breast:
3	chr12:106315789..106319466-chr12:106324083..106326577,3	MCF-7	breast:
4	chr12:106315341..106317529-chr12:106329436..106331442,2	MCF-7	breast:
5	chr12:106315347..106318864-chr12:106319444..106323334,6	MCF-7	breast:
6	chr12:106313628..106315997-chr12:106317077..106319893,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11112795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11829465	1.00[AMR][1000 genomes]
rs1421468	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037880	1.00[AMR][1000 genomes]
rs59992427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969083	1.00[AFR][1000 genomes];1.00[AMR][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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106312600-106317400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:106313200-106316400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:106313400-106316600	Enhancers	Fetal Heart	heart
4	chr12:106313400-106317200	Enhancers	NHEK	skin
5	chr12:106313600-106317200	Enhancers	Fetal Muscle Leg	muscle
6	chr12:106314600-106316200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:106314600-106316800	Weak transcription	Left Ventricle	heart
8	chr12:106314600-106324200	Weak transcription	Right Atrium	heart
9	chr12:106315200-106316000	Enhancers	Brain Angular Gyrus	brain
10	chr12:106315400-106316000	Enhancers	Stomach Smooth Muscle	stomach
11	chr12:106315400-106316200	Enhancers	Brain Germinal Matrix	brain
12	chr12:106315400-106316200	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:106315400-106316400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:106315400-106316800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:106315400-106317000	Enhancers	Brain Anterior Caudate	brain
16	chr12:106315600-106316200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr12:106315600-106316200	Transcr. at gene 5' and 3'	HSMMtube	muscle
18	chr12:106315600-106317200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:106315600-106317200	Enhancers	HMEC	breast
20	chr12:106315600-106317400	Enhancers	A549	lung
21	chr12:106315800-106316000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:106315800-106316000	Enhancers	Lung	lung
23	chr12:106315800-106316000	Enhancers	Psoas Muscle	Psoas
24	chr12:106315800-106316000	Enhancers	Right Ventricle	heart
25	chr12:106315800-106316400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:106315800-106316400	Enhancers	Rectal Smooth Muscle	rectum
27	chr12:106315800-106316600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr12:106315800-106316600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:106315800-106316600	Enhancers	Fetal Muscle Trunk	muscle
30	chr12:106315800-106316800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:106315800-106316800	Enhancers	Colon Smooth Muscle	Colon
32	chr12:106315800-106317000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:106315800-106317000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:106315800-106317000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:106315800-106317200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:106315800-106317200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:106315800-106317400	Enhancers	HSMM	muscle

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