Variant report

Variant	rs2248067
Chromosome Location	chr12:123166177-123166178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123163325..123167706-chr12:123172558..123174898,3	MCF-7	breast:
2	chr12:123143377..123146138-chr12:123164475..123166669,2	MCF-7	breast:
3	chr12:123164745..123167485-chr12:123170357..123173232,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256249	Chromatin interaction

rs_ID	r²[population]
rs2247409	1.00[AFR][1000 genomes]
rs2454706	0.81[AFR][1000 genomes]
rs2936766	1.00[AFR][1000 genomes]
rs594168	0.90[AFR][1000 genomes]
rs631955	1.00[AFR][1000 genomes]
rs672737	1.00[AFR][1000 genomes]
rs858137	0.90[AFR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123162600-123166400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:123163000-123167600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:123163200-123166400	Enhancers	Primary B cells from cord blood	blood
4	chr12:123163600-123166200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr12:123164200-123171600	Weak transcription	Esophagus	oesophagus
6	chr12:123164200-123171800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:123164600-123166200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:123164600-123166200	Weak transcription	Adipose Nuclei	Adipose
9	chr12:123164600-123166400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:123164600-123166400	Weak transcription	Hela-S3	cervix
11	chr12:123164800-123166200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:123164800-123166200	Weak transcription	A549	lung
13	chr12:123164800-123166200	Weak transcription	NHLF	lung
14	chr12:123164800-123166200	Weak transcription	Osteobl	bone
15	chr12:123164800-123166400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:123165400-123166400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:123165400-123166600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:123165800-123167000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:123166000-123166200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:123166000-123166400	Enhancers	Placenta	Placenta
21	chr12:123166000-123166600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:123166000-123166600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:123166000-123166600	Flanking Active TSS	HepG2	liver
24	chr12:123166000-123166600	Enhancers	NHDF-Ad	bronchial
25	chr12:123166000-123166800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:123166000-123166800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:123166000-123166800	Enhancers	GM12878-XiMat	blood

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