Variant report

Variant	rs548112466
Chromosome Location	chr19:42581130-42581131
allele	C/T
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
ENSG00000105722	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000105737	Chromatin interaction
ENSG00000105409	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000028277	Chromatin interaction
ENSG00000079462	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	chr19:42579200-42581200	Active TSS	Psoas Muscle	Psoas
7	chr19:42579200-42581400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr19:42579200-42581400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:42579200-42581600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:42579200-42581800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:42579200-42582000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr19:42579200-42582000	Active TSS	HSMMtube	muscle
13	chr19:42579400-42581200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:42579400-42581200	Active TSS	Aorta	Aorta
15	chr19:42579400-42581200	Active TSS	Fetal Intestine Large	intestine
16	chr19:42579400-42581200	Active TSS	Fetal Intestine Small	intestine
17	chr19:42579400-42581200	Active TSS	Fetal Lung	lung
18	chr19:42579400-42581200	Active TSS	Gastric	stomach
19	chr19:42579400-42581200	Active TSS	Ovary	ovary
20	chr19:42579400-42581200	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr19:42579400-42581400	Active TSS	Esophagus	oesophagus
22	chr19:42579600-42581200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:42579600-42581200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr19:42579600-42581200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:42579600-42581200	Active TSS	Left Ventricle	heart
26	chr19:42579600-42581200	Active TSS	Lung	lung
27	chr19:42579600-42581200	Active TSS	Pancreas	Pancrea
28	chr19:42579600-42581200	Active TSS	Hela-S3	cervix
29	chr19:42579600-42581200	Active TSS	HMEC	breast
30	chr19:42579600-42581200	Active TSS	NH-A	brain
31	chr19:42579600-42581200	Active TSS	NHEK	skin
32	chr19:42579600-42581400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:42579600-42581400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr19:42579600-42581400	Active TSS	A549	lung
35	chr19:42579600-42581400	Active TSS	GM12878-XiMat	blood
36	chr19:42579600-42581600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr19:42579600-42581600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:42579600-42581600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:42579600-42581600	Active TSS	Fetal Muscle Trunk	muscle
40	chr19:42579600-42581800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:42579600-42581800	Active TSS	NHDF-Ad	bronchial
42	chr19:42579800-42581200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:42579800-42581200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr19:42579800-42581200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:42579800-42581200	Active TSS	HUVEC	blood vessel
46	chr19:42579800-42581400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr19:42579800-42581400	Active TSS	NHLF	lung
48	chr19:42579800-42581800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr19:42579800-42582000	Active TSS	H1 Cell Line	embryonic stem cell
50	chr19:42580000-42581200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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