Variant report

Variant	rs12713090
Chromosome Location	chr2:50371170-50371171
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:49997762..49998692-chr2:50371136..50371712,4	MCF-7	breast:
2	chr2:49843960..49844616-chr2:50371140..50372027,2	MCF-7	breast:
3	chr2:49914681..49916077-chr2:50370732..50372339,6	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10197877	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs10746528	0.83[CEU][hapmap]
rs12468006	0.83[CEU][hapmap]
rs1452763	0.83[EUR][1000 genomes]
rs1452782	0.95[ASN][1000 genomes]
rs1530917	0.95[ASN][1000 genomes]
rs1530918	0.97[ASN][1000 genomes]
rs2045005	0.93[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs2060885	0.83[CEU][hapmap]
rs2351156	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602002	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs2602003	1.00[YRI][hapmap]
rs2678218	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2688892	1.00[YRI][hapmap]
rs2688893	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs4971647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7567914	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7586857	0.83[CEU][hapmap]
rs990024	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50370600-50371600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:50370800-50371200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:50370800-50371200	Enhancers	Brain Angular Gyrus	brain
4	chr2:50370800-50371200	Enhancers	HMEC	breast
5	chr2:50370800-50371600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:50370800-50371600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:50370800-50371600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:50370800-50371600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:50370800-50371600	Enhancers	Fetal Lung	lung
10	chr2:50370800-50371600	Enhancers	Psoas Muscle	Psoas
11	chr2:50371000-50371200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:50371000-50371200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:50371000-50371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:50371000-50371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:50371000-50371200	Enhancers	Adipose Nuclei	Adipose
16	chr2:50371000-50371200	Enhancers	Liver	Liver
17	chr2:50371000-50371200	Enhancers	Fetal Heart	heart
18	chr2:50371000-50371200	Enhancers	Fetal Intestine Large	intestine
19	chr2:50371000-50371200	Enhancers	Dnd41	blood
20	chr2:50371000-50371400	Enhancers	Brain Germinal Matrix	brain
21	chr2:50371000-50371600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:50371000-50371600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:50371000-50371600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:50371000-50371600	Active TSS	Brain Hippocampus Middle	brain
25	chr2:50371000-50371600	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr2:50371000-50371600	Active TSS	A549	lung
27	chr2:50371000-50371600	Active TSS	HepG2	liver
28	chr2:50371000-50371600	Active TSS	NHDF-Ad	bronchial
29	chr2:50371000-50371800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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