Variant report

Variant	rs10878116
Chromosome Location	chr12:64566649-64566650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64564304..64566773-chr12:64570258..64571875,2	MCF-7	breast:
2	chr12:64563969..64566740-chr12:64567525..64570598,3	MCF-7	breast:
3	chr12:64566259..64570333-chr12:64574153..64576842,4	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1021665	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748003	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10784384	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10784385	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878110	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10878111	0.82[EUR][1000 genomes]
rs10878114	0.82[EUR][1000 genomes]
rs10878115	0.82[EUR][1000 genomes]
rs10878117	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878118	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11175269	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175270	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2643665	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3932167	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4763139	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs699633	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs722526	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs789711	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs789712	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs789713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs789748	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9788007	0.83[EUR][1000 genomes]

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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64563200-64566800	Enhancers	HMEC	breast
2	chr12:64563400-64567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:64563400-64567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:64563400-64567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:64563400-64567800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:64563600-64566800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:64563600-64567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:64563600-64567600	Enhancers	NHDF-Ad	bronchial
9	chr12:64563600-64567800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:64563600-64574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:64563800-64567600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:64563800-64567600	Enhancers	Osteobl	bone
13	chr12:64564000-64568000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:64564000-64569000	Weak transcription	Fetal Brain Male	brain
15	chr12:64564200-64569200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:64564200-64569200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:64564200-64569400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:64564400-64568400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:64564400-64569400	Weak transcription	Brain Anterior Caudate	brain
20	chr12:64564600-64568800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:64565400-64567800	Enhancers	Hela-S3	cervix
22	chr12:64565600-64568800	Weak transcription	Fetal Brain Female	brain
23	chr12:64565600-64570800	Weak transcription	HSMMtube	muscle
24	chr12:64565800-64570800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:64565800-64575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:64566000-64566800	Enhancers	NHEK	skin
27	chr12:64566000-64567200	Weak transcription	HepG2	liver
28	chr12:64566000-64568800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:64566000-64569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:64566000-64570600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:64566000-64574800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:64566200-64566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:64566200-64567000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:64566200-64570800	Weak transcription	NH-A	brain
35	chr12:64566600-64568600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:64566600-64568600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:64566600-64570400	Weak transcription	HUVEC	blood vessel
38	chr12:64566600-64570600	Weak transcription	NHLF	lung
39	chr12:64566600-64571000	Weak transcription	HSMM	muscle
40	chr12:64566600-64571600	Weak transcription	A549	lung

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