Variant report

Variant	rs2678120
Chromosome Location	chr12:43150954-43150955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:43144917..43147362-chr12:43148881..43152996,3	MCF-7	breast:
2	chr12:42983007..42984827-chr12:43150919..43152450,2	MCF-7	breast:
3	chr12:43149824..43152359-chr12:43167562..43169768,2	MCF-7	breast:
4	chr12:43128007..43129879-chr12:43150187..43151770,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139174	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11181691	0.82[EUR][1000 genomes]
rs2730982	0.95[EUR][1000 genomes]
rs2730995	0.82[EUR][1000 genomes]
rs7955978	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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43140800-43152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:43149600-43152200	Enhancers	HSMM	muscle
3	chr12:43149600-43153800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:43149600-43154800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:43149600-43156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:43149800-43153200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:43149800-43153600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:43149800-43154000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr12:43149800-43155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:43149800-43156600	Enhancers	HMEC	breast
11	chr12:43150000-43151200	Enhancers	A549	lung
12	chr12:43150000-43151800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:43150000-43151800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:43150000-43153800	Enhancers	NHEK	skin
15	chr12:43150200-43151200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:43150200-43151200	Enhancers	GM12878-XiMat	blood
17	chr12:43150200-43151600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:43150200-43152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:43150200-43152000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:43150200-43152000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:43150200-43152200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:43150200-43152200	Enhancers	Osteobl	bone
23	chr12:43150200-43154000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:43150200-43154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:43150200-43154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:43150200-43155200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:43150400-43151400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:43150400-43151800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:43150400-43151800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:43150400-43154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:43150600-43151000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr12:43150600-43151400	Enhancers	HUVEC	blood vessel
33	chr12:43150600-43151600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:43150600-43151800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:43150600-43151800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:43150600-43152200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:43150600-43152200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:43150600-43152800	Enhancers	HSMMtube	muscle
39	chr12:43150800-43151000	Flanking Active TSS	NH-A	brain
40	chr12:43150800-43151200	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr12:43150800-43151200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr12:43150800-43151600	Enhancers	Hela-S3	cervix
43	chr12:43150800-43151800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:43150800-43152400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:43150800-43154800	Enhancers	Fetal Lung	lung

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