Variant report

Variant	rs12544004
Chromosome Location	chr8:49543160-49543161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49539159..49543167-chr8:49831897..49834584,3	MCF-7	breast:
2	chr8:49541767..49544762-chr8:49827612..49829547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000019549	Chromatin interaction

rs_ID	r²[population]
rs10957178	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957179	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10957183	0.93[EUR][1000 genomes]
rs12542549	0.93[EUR][1000 genomes]
rs12545638	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs12545705	0.84[EUR][1000 genomes]
rs12549320	0.90[AMR][1000 genomes]
rs1473441	0.82[AMR][1000 genomes]
rs1905108	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1976023	0.87[AMR][1000 genomes]
rs2004389	0.89[AMR][1000 genomes]
rs2128241	0.86[EUR][1000 genomes]
rs62509321	0.84[EUR][1000 genomes]
rs62509354	0.86[EUR][1000 genomes]
rs62509355	0.83[AMR][1000 genomes]
rs745487	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs900239	0.95[EUR][1000 genomes]
rs900240	0.91[EUR][1000 genomes]
rs9650145	0.89[EUR][1000 genomes]
rs9650146	0.90[EUR][1000 genomes]

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
2	chr8:49537600-49547000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr8:49538400-49545800	Weak transcription	Fetal Stomach	stomach
4	chr8:49538600-49546200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:49538800-49544000	Enhancers	HMEC	breast
6	chr8:49539000-49543200	Enhancers	A549	lung
7	chr8:49539000-49543600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:49539000-49546000	Weak transcription	Fetal Kidney	kidney
9	chr8:49539200-49544200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:49539200-49544200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:49539600-49544000	Enhancers	NHEK	skin
12	chr8:49539800-49544200	Enhancers	NH-A	brain
13	chr8:49540000-49543600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:49540400-49543200	Enhancers	Hela-S3	cervix
15	chr8:49540400-49545800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:49542200-49543200	Enhancers	Placenta	Placenta
17	chr8:49542200-49544000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:49542400-49543200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:49542400-49544000	Enhancers	HSMM	muscle
20	chr8:49542600-49543200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:49542600-49544400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:49542800-49543200	Enhancers	Spleen	Spleen
23	chr8:49542800-49543400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:49542800-49544200	Enhancers	NHDF-Ad	bronchial
25	chr8:49542800-49544400	Enhancers	Osteobl	bone
26	chr8:49543000-49543200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:49543000-49543200	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:49543000-49543200	Enhancers	NHLF	lung
29	chr8:49543000-49543600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:49543000-49544200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:49543000-49544200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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