Variant report

Variant	rs10048509
Chromosome Location	chr19:53581182-53581183
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	chr19:53580803..53583799-chr19:53585979..53588873,2	K562	blood:
2	chr19:53580105..53582342-chr19:53607361..53608967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170949	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7254015	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758506	chr19:53410459-53652575	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv2758769	chr19:53410459-53652575	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv428370	chr19:53410459-53652575	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53564600-53586800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53564800-53586600	ZNF genes & repeats	Liver	Liver
3	chr19:53568000-53586400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:53568400-53588600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:53570000-53582000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:53570200-53587400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:53570600-53589600	ZNF genes & repeats	GM12878-XiMat	blood
8	chr19:53571000-53587200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr19:53571800-53581200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
10	chr19:53571800-53583400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:53571800-53586000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
12	chr19:53571800-53586600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr19:53573600-53581600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
15	chr19:53574200-53584000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:53574600-53582400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:53574800-53584000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:53574800-53585200	Weak transcription	Psoas Muscle	Psoas
19	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:53576200-53586400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr19:53576400-53583200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
25	chr19:53577000-53583000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:53577000-53584000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:53577400-53587600	Weak transcription	Fetal Brain Male	brain
28	chr19:53577600-53581800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:53577600-53587800	Weak transcription	NHLF	lung
30	chr19:53578200-53588600	Weak transcription	Fetal Kidney	kidney
31	chr19:53578400-53582200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:53578400-53583800	Weak transcription	Brain Germinal Matrix	brain
33	chr19:53578400-53587400	Weak transcription	Brain Anterior Caudate	brain
34	chr19:53578400-53588000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:53578600-53585200	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:53578600-53585400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr19:53578600-53586400	Weak transcription	NH-A	brain
38	chr19:53578600-53587600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr19:53578800-53581800	Strong transcription	Thymus	Thymus
40	chr19:53578800-53588000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:53578800-53593400	Weak transcription	HepG2	liver
42	chr19:53579000-53585400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr19:53579000-53587400	Weak transcription	NHDF-Ad	bronchial
44	chr19:53579200-53582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:53579200-53585200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:53579200-53585200	Weak transcription	Placenta	Placenta
47	chr19:53579200-53585600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:53579200-53585600	Weak transcription	Right Ventricle	heart
49	chr19:53579400-53581600	Weak transcription	Primary B cells from cord blood	blood
50	chr19:53579400-53581800	Weak transcription	K562	blood

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