Variant report

Variant	rs534278779
Chromosome Location	chr19:42581306-42581307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42362719..42367011-chr19:42578185..42581831,5	K562	blood:
2	chr19:42580276..42583237-chr19:42757851..42759811,2	K562	blood:
3	chr19:42579835..42581809-chr19:42805426..42808329,2	K562	blood:
4	chr19:42579143..42581676-chr19:42599537..42601981,2	K562	blood:
5	chr19:42362767..42365637-chr19:42577892..42581321,5	K562	blood:
6	chr19:42362802..42365669-chr19:42579542..42583856,4	MCF-7	breast:
7	chr19:42578926..42581417-chr19:42757384..42759123,2	K562	blood:
8	chr19:42501468..42504602-chr19:42578170..42581487,3	K562	blood:
9	chr19:42462261..42465397-chr19:42579731..42582911,4	MCF-7	breast:
10	chr19:42386135..42388674-chr19:42579222..42581788,5	K562	blood:
11	chr19:42386135..42388460-chr19:42579140..42581462,3	K562	blood:
12	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:
13	chr19:42388358..42390538-chr19:42579521..42581745,2	MCF-7	breast:
14	chr19:42568861..42574784-chr19:42577207..42582012,11	K562	blood:
15	chr19:42460466..42464604-chr19:42577075..42581382,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000028277	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000105737	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105409	Chromatin interaction
ENSG00000268643	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv12493	chr19:42579999-42582314	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	n/a
7	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42578800-42581600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:42579000-42581400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr19:42579000-42582000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:42579000-42582200	Active TSS	HSMM	muscle
5	chr19:42579000-42582600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:42579200-42581400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:42579200-42581400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:42579200-42581600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr19:42579200-42581800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:42579200-42582000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:42579200-42582000	Active TSS	HSMMtube	muscle
12	chr19:42579400-42581400	Active TSS	Esophagus	oesophagus
13	chr19:42579600-42581400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:42579600-42581400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:42579600-42581400	Active TSS	A549	lung
16	chr19:42579600-42581400	Active TSS	GM12878-XiMat	blood
17	chr19:42579600-42581600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:42579600-42581600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:42579600-42581600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:42579600-42581600	Active TSS	Fetal Muscle Trunk	muscle
21	chr19:42579600-42581800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:42579600-42581800	Active TSS	NHDF-Ad	bronchial
23	chr19:42579800-42581400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:42579800-42581400	Active TSS	NHLF	lung
25	chr19:42579800-42581800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:42579800-42582000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr19:42580000-42582200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:42580400-42581400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:42580600-42581400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr19:42580600-42582000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr19:42580800-42581400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr19:42580800-42581400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:42580800-42581400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr19:42580800-42581400	Flanking Active TSS	Fetal Thymus	thymus
35	chr19:42580800-42581400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
36	chr19:42580800-42581400	Flanking Active TSS	Stomach Mucosa	stomach
37	chr19:42580800-42581600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr19:42580800-42581600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr19:42580800-42581600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:42580800-42581600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr19:42580800-42581600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr19:42580800-42581600	Flanking Active TSS	Liver	Liver
43	chr19:42580800-42581600	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr19:42580800-42581600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr19:42580800-42581600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr19:42580800-42581600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr19:42580800-42581600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:42580800-42581600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr19:42580800-42581800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr19:42580800-42581800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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