Variant report

Variant	rs10748001
Chromosome Location	chr12:64546410-64546411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64544303..64546413-chr12:64549657..64551818,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10878111	0.82[EUR][1000 genomes]
rs10878114	0.82[EUR][1000 genomes]
rs10878115	0.82[EUR][1000 genomes]
rs11175269	0.81[CEU][hapmap]
rs4763139	0.81[CEU][hapmap]
rs699633	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64531600-64554400	Weak transcription	NH-A	brain
2	chr12:64537800-64547600	Weak transcription	Hela-S3	cervix
3	chr12:64537800-64551000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:64538000-64553400	Weak transcription	HMEC	breast
5	chr12:64540000-64553400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:64540000-64553400	Weak transcription	NHEK	skin
7	chr12:64540400-64553400	Weak transcription	Osteobl	bone
8	chr12:64540400-64553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:64540400-64558800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:64541400-64550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:64541400-64554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:64542400-64553800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:64543200-64553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:64543400-64547400	Weak transcription	HSMMtube	muscle
15	chr12:64543600-64554000	Weak transcription	HSMM	muscle
16	chr12:64543800-64553400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:64544200-64553800	Weak transcription	NHLF	lung
18	chr12:64545800-64546600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:64546200-64547000	Enhancers	NHDF-Ad	bronchial
20	chr12:64546400-64546600	Enhancers	Stomach Mucosa	stomach
21	chr12:64546400-64548000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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