Variant report

Variant	rs1434575
Chromosome Location	chr19:44848708-44848709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44846057..44848981-chr19:44852585..44854533,2	MCF-7	breast:
2	chr19:44847055..44849987-chr19:44852679..44854366,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1011567	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11667521	0.82[MEX][hapmap]
rs11670157	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11671074	0.85[CEU][hapmap];0.87[MEX][hapmap];0.80[EUR][1000 genomes]
rs12151072	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12461251	0.81[CEU][hapmap]
rs12462557	0.82[MEX][hapmap]
rs12462723	0.82[MEX][hapmap]
rs12972550	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12981298	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1434576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1897826	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2014501	0.87[ASN][1000 genomes]
rs2051058	0.85[CEU][hapmap];0.87[MEX][hapmap]
rs2196184	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2196186	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2196187	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356881	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803697	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67711424	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7251134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7252577	0.86[ASN][1000 genomes]
rs7256402	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733265	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8104642	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105073	0.81[JPT][hapmap]
rs9676368	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984117	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44823200-44856200	ZNF genes & repeats	Liver	Liver
2	chr19:44828600-44848800	ZNF genes & repeats	Fetal Brain Female	brain
3	chr19:44828600-44851000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:44830800-44850400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44837400-44851000	ZNF genes & repeats	Ovary	ovary
6	chr19:44840800-44860000	Weak transcription	NHDF-Ad	bronchial
7	chr19:44842800-44850200	Weak transcription	Fetal Heart	heart
8	chr19:44843000-44848800	ZNF genes & repeats	Fetal Stomach	stomach
9	chr19:44844200-44859600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:44844200-44859800	Weak transcription	Osteobl	bone
11	chr19:44844800-44851000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:44844800-44853000	Weak transcription	HSMMtube	muscle
13	chr19:44845000-44850200	Weak transcription	NH-A	brain
14	chr19:44845000-44860000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:44845200-44849000	Weak transcription	Brain Hippocampus Middle	brain
16	chr19:44845200-44860000	Weak transcription	HSMM	muscle
17	chr19:44845400-44859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:44846200-44849400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:44846600-44849200	Weak transcription	Brain Germinal Matrix	brain
20	chr19:44846600-44849200	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr19:44847000-44853200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:44847200-44849000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44847200-44850600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr19:44847400-44848800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:44847400-44848800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr19:44847400-44848800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:44847400-44849000	Strong transcription	Brain Angular Gyrus	brain
28	chr19:44847400-44849000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
29	chr19:44847400-44849600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:44847400-44849600	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr19:44847400-44849800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:44847400-44850000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:44847400-44850400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:44847400-44851400	ZNF genes & repeats	Aorta	Aorta
35	chr19:44847400-44855200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr19:44847600-44849000	Enhancers	Primary B cells from peripheral blood	blood
37	chr19:44847600-44849000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:44847600-44849000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr19:44847600-44849000	ZNF genes & repeats	Lung	lung
40	chr19:44847800-44849200	Weak transcription	Pancreas	Pancrea
41	chr19:44847800-44850200	Weak transcription	Esophagus	oesophagus
42	chr19:44847800-44855400	Weak transcription	Right Ventricle	heart
43	chr19:44848000-44848800	Weak transcription	A549	lung
44	chr19:44848000-44850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:44848000-44851800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:44848200-44850200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:44848200-44852200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:44848200-44853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:44848200-44854800	Weak transcription	Fetal Brain Male	brain
50	chr19:44848400-44849000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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