Variant report

Variant	rs57657052
Chromosome Location	chr12:117572371-117572372
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	chr12:117567393..117570707-chr12:117571769..117574020,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16947370	1.00[EUR][1000 genomes]
rs16947421	1.00[EUR][1000 genomes]
rs60695198	1.00[EUR][1000 genomes]
rs7960451	1.00[EUR][1000 genomes]
rs7961096	1.00[EUR][1000 genomes]
rs9658301	1.00[EUR][1000 genomes]
rs9658422	1.00[EUR][1000 genomes]
rs9658426	1.00[EUR][1000 genomes]
rs9658465	1.00[EUR][1000 genomes]
rs9658479	1.00[EUR][1000 genomes]
rs9658481	1.00[EUR][1000 genomes]
rs9658487	1.00[EUR][1000 genomes]
rs9658507	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117566400-117582200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117566800-117582200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:117566800-117583400	Weak transcription	Fetal Kidney	kidney
6	chr12:117568400-117582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:117568400-117582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:117568600-117578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:117568600-117583200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:117568600-117588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:117568800-117579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:117570400-117572800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:117570600-117574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:117570800-117573000	Enhancers	Fetal Thymus	thymus
15	chr12:117571000-117573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:117571200-117572800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:117571200-117573000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:117571200-117573200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:117571400-117572400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:117571400-117572400	Flanking Active TSS	Dnd41	blood
21	chr12:117571400-117572600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:117571400-117572600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:117571400-117572600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:117571400-117572800	Enhancers	Primary hematopoietic stem cells	blood
25	chr12:117571400-117573000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:117571400-117573200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:117571600-117572400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:117571600-117572400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:117571600-117573000	Enhancers	Thymus	Thymus
30	chr12:117571800-117572400	Enhancers	Fetal Brain Male	brain
31	chr12:117571800-117583400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:117572000-117572400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:117572000-117572400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:117572000-117582000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:117572200-117572400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:117572200-117572800	Enhancers	Primary T cells from cord blood	blood
37	chr12:117572200-117575000	Weak transcription	A549	lung
38	chr12:117572200-117577000	Weak transcription	HUVEC	blood vessel
39	chr12:117572200-117578200	Weak transcription	Fetal Stomach	stomach
40	chr12:117572200-117578200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:117572200-117579400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr12:117572200-117580000	Weak transcription	Primary B cells from cord blood	blood
43	chr12:117572200-117580000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:117572200-117581200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:117572200-117581600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:117572200-117582200	Weak transcription	Aorta	Aorta
47	chr12:117572200-117586400	Weak transcription	NHDF-Ad	bronchial
48	chr12:117572200-117586800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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