Variant report

Variant	rs146926818
Chromosome Location	chr19:53576672-53576673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:53569932..53571505-chr19:53575389..53577141,2	K562	blood:
2	chr19:53557284..53559670-chr19:53575484..53577211,2	K562	blood:
3	chr19:53576657..53578759-chr19:53604780..53606841,2	MCF-7	breast:
4	chr19:53571470..53573279-chr19:53575256..53577909,2	K562	blood:

Variant related genes	Relation type
ENSG00000170949	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv963073	chr19:53576593-53580049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53564400-53577000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:53564600-53586800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:53564800-53586600	ZNF genes & repeats	Liver	Liver
4	chr19:53566200-53577400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:53567800-53576800	ZNF genes & repeats	Fetal Muscle Leg	muscle
6	chr19:53568000-53580600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr19:53568000-53586400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:53568200-53577000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:53568200-53580600	ZNF genes & repeats	Lung	lung
10	chr19:53568400-53577800	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr19:53568400-53580600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr19:53568400-53588600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:53569000-53579200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:53569400-53576800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr19:53569400-53577000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:53569400-53578600	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr19:53569600-53579400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:53570000-53582000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:53570200-53577000	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr19:53570200-53579200	ZNF genes & repeats	Ovary	ovary
21	chr19:53570200-53580600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr19:53570200-53580800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr19:53570200-53587400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:53570400-53578400	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr19:53570400-53578400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:53570400-53578800	ZNF genes & repeats	Thymus	Thymus
27	chr19:53570400-53580400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:53570600-53589600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr19:53570800-53577200	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr19:53571000-53579200	ZNF genes & repeats	Aorta	Aorta
31	chr19:53571000-53580600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
32	chr19:53571000-53587200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
33	chr19:53571400-53577600	ZNF genes & repeats	Spleen	Spleen
34	chr19:53571400-53580600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:53571800-53577600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr19:53571800-53579200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:53571800-53581200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr19:53571800-53583400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:53571800-53586000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:53571800-53586600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr19:53572000-53577000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:53572000-53579200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:53572200-53580400	ZNF genes & repeats	Esophagus	oesophagus
44	chr19:53572600-53579400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr19:53573200-53578600	Strong transcription	Brain Hippocampus Middle	brain
46	chr19:53573400-53578200	Strong transcription	Fetal Kidney	kidney
47	chr19:53573400-53578400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:53573400-53578400	Strong transcription	Brain Germinal Matrix	brain
49	chr19:53573400-53579200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:53573400-53579600	Strong transcription	Stomach Smooth Muscle	stomach

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