Variant report

Variant	rs12610672
Chromosome Location	chr19:44945571-44945572
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44928515..44931460-chr19:44942869..44945862,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1062093	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1062098	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12460231	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12977016	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12977629	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12978167	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12978546	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12978904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12980701	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12982684	0.82[CEU][hapmap]
rs12983504	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12983645	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434579	0.90[CEU][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2037903	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037904	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35813988	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7246892	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8102733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2756827	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2758764	chr19:44894102-44947444	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44928400-44951800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr19:44934600-44950800	Weak transcription	Hela-S3	cervix
4	chr19:44936000-44951400	Weak transcription	Fetal Heart	heart
5	chr19:44936400-44952000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:44937400-44946400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:44937400-44951800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:44938400-44951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44938600-44946600	Weak transcription	HSMM	muscle
10	chr19:44938800-44945800	Weak transcription	NHLF	lung
11	chr19:44938800-44946400	Weak transcription	Fetal Kidney	kidney
12	chr19:44938800-44951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:44939000-44946000	Weak transcription	NH-A	brain
14	chr19:44939000-44948400	Weak transcription	NHEK	skin
15	chr19:44940000-44948200	Weak transcription	Osteobl	bone
16	chr19:44940000-44950600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:44940200-44946200	Weak transcription	NHDF-Ad	bronchial
18	chr19:44940200-44951200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:44940600-44951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:44940600-44951800	Weak transcription	Fetal Thymus	thymus
21	chr19:44941000-44946000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:44941000-44946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:44941600-44950400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:44942000-44950200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:44942000-44950400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:44942000-44950800	ZNF genes & repeats	Fetal Brain Female	brain
27	chr19:44942200-44946600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:44942200-44951800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:44942400-44950400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr19:44942400-44951400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44942600-44952000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:44943000-44947200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:44943400-44945600	Strong transcription	Ovary	ovary
34	chr19:44943400-44945800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr19:44943400-44946000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:44943400-44946000	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:44943400-44946400	Weak transcription	Right Ventricle	heart
38	chr19:44943600-44946600	Weak transcription	HSMMtube	muscle
39	chr19:44943800-44946000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr19:44943800-44946400	Weak transcription	Pancreas	Pancrea
41	chr19:44944000-44946400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:44944000-44946400	Weak transcription	Fetal Stomach	stomach
43	chr19:44944200-44947800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:44944200-44950400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:44944400-44949800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:44944400-44952200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr19:44944600-44946200	ZNF genes & repeats	Fetal Lung	lung
48	chr19:44944600-44949600	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr19:44944600-44952200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr19:44944800-44948400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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