Variant report

Variant	rs17860283
Chromosome Location	chr12:51740280-51740281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51661897..51665217-chr12:51739188..51742261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10783438	1.00[EUR][1000 genomes]
rs12578858	1.00[EUR][1000 genomes]
rs12579126	1.00[EUR][1000 genomes]
rs12579841	1.00[EUR][1000 genomes]
rs12580621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12581208	1.00[EUR][1000 genomes]
rs12582216	1.00[EUR][1000 genomes]
rs17860267	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17860320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860337	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2067764	1.00[EUR][1000 genomes]
rs3741700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3889974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58448629	1.00[EUR][1000 genomes]
rs60044798	1.00[EUR][1000 genomes]
rs61612083	1.00[EUR][1000 genomes]
rs73309782	1.00[EUR][1000 genomes]
rs73309783	1.00[EUR][1000 genomes]
rs73309787	1.00[EUR][1000 genomes]
rs73309789	1.00[EUR][1000 genomes]
rs73309790	1.00[EUR][1000 genomes]
rs73311613	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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51731800-51750600	Weak transcription	Spleen	Spleen
2	chr12:51734800-51740400	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:51735400-51741000	Weak transcription	Placenta	Placenta
4	chr12:51735400-51743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:51735400-51743000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:51735400-51745400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:51735400-51745400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:51735400-51745800	Weak transcription	Fetal Intestine Small	intestine
9	chr12:51735400-51746800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:51735400-51747400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:51735400-51747400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:51735400-51747400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:51735400-51747600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:51735400-51747800	Weak transcription	NHLF	lung
15	chr12:51735400-51750200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:51735400-51750600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:51735400-51750600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:51735400-51756000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:51735600-51746800	Weak transcription	Primary T cells from cord blood	blood
20	chr12:51735600-51750600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:51735600-51761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51735800-51747400	Weak transcription	Dnd41	blood
23	chr12:51736400-51765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:51736600-51742000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:51739000-51740400	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr12:51739000-51740400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:51739000-51740800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr12:51739000-51741000	Enhancers	Fetal Thymus	thymus
29	chr12:51739200-51740400	Enhancers	Thymus	Thymus
30	chr12:51739200-51740600	Enhancers	NH-A	brain
31	chr12:51739400-51740400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:51739400-51740600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:51739400-51740600	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:51739400-51741000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:51739400-51741000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:51739400-51741000	Enhancers	Osteobl	bone
37	chr12:51739400-51748400	Weak transcription	Gastric	stomach
38	chr12:51739400-51754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:51739600-51740400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:51739600-51741000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:51739600-51744800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:51739600-51750600	Weak transcription	GM12878-XiMat	blood
43	chr12:51740000-51741000	Enhancers	Pancreas	Pancrea
44	chr12:51740000-51741800	Weak transcription	K562	blood
45	chr12:51740000-51742000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:51740000-51742400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:51740000-51747400	Weak transcription	NHEK	skin
48	chr12:51740200-51740400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:51740200-51740800	Enhancers	NHDF-Ad	bronchial
50	chr12:51740200-51745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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