Variant report

Variant	rs113380955
Chromosome Location	chr19:42580845-42580846
allele	A/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr19:42460531..42463518-chr19:42578179..42580939,2	K562	blood:
7	chr19:42362802..42365669-chr19:42579542..42583856,4	MCF-7	breast:
8	chr19:42578926..42581417-chr19:42757384..42759123,2	K562	blood:
9	chr19:42501468..42504602-chr19:42578170..42581487,3	K562	blood:
10	chr19:42462261..42465397-chr19:42579731..42582911,4	MCF-7	breast:
11	chr19:42386135..42388674-chr19:42579222..42581788,5	K562	blood:
12	chr19:42386135..42388460-chr19:42579140..42581462,3	K562	blood:
13	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:
14	chr19:42388358..42390538-chr19:42579521..42581745,2	MCF-7	breast:
15	chr19:42568861..42574784-chr19:42577207..42582012,11	K562	blood:
16	chr19:42460466..42464604-chr19:42577075..42581382,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105409	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105737	Chromatin interaction
ENSG00000028277	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000076928	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	chr19:42579000-42581000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:42579000-42581400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:42579000-42582000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:42579000-42582200	Active TSS	HSMM	muscle
6	chr19:42579000-42582600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:42579200-42581000	Active TSS	Colon Smooth Muscle	Colon
8	chr19:42579200-42581000	Active TSS	Fetal Kidney	kidney
9	chr19:42579200-42581200	Active TSS	Psoas Muscle	Psoas
10	chr19:42579200-42581400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:42579200-42581400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:42579200-42581600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:42579200-42581800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:42579200-42582000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:42579200-42582000	Active TSS	HSMMtube	muscle
16	chr19:42579400-42581000	Active TSS	Right Ventricle	heart
17	chr19:42579400-42581000	Active TSS	Small Intestine	intestine
18	chr19:42579400-42581200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:42579400-42581200	Active TSS	Aorta	Aorta
20	chr19:42579400-42581200	Active TSS	Fetal Intestine Large	intestine
21	chr19:42579400-42581200	Active TSS	Fetal Intestine Small	intestine
22	chr19:42579400-42581200	Active TSS	Fetal Lung	lung
23	chr19:42579400-42581200	Active TSS	Gastric	stomach
24	chr19:42579400-42581200	Active TSS	Ovary	ovary
25	chr19:42579400-42581200	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr19:42579400-42581400	Active TSS	Esophagus	oesophagus
27	chr19:42579600-42581000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:42579600-42581000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:42579600-42581000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr19:42579600-42581000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr19:42579600-42581000	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr19:42579600-42581000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr19:42579600-42581000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:42579600-42581000	Active TSS	Brain Angular Gyrus	brain
35	chr19:42579600-42581000	Active TSS	Brain Anterior Caudate	brain
36	chr19:42579600-42581000	Active TSS	Brain Cingulate Gyrus	brain
37	chr19:42579600-42581000	Active TSS	Brain Germinal Matrix	brain
38	chr19:42579600-42581000	Active TSS	Brain Substantia Nigra	brain
39	chr19:42579600-42581000	Active TSS	Colonic Mucosa	Colon
40	chr19:42579600-42581000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr19:42579600-42581000	Active TSS	Fetal Brain Female	brain
42	chr19:42579600-42581000	Active TSS	Fetal Stomach	stomach
43	chr19:42579600-42581000	Active TSS	Spleen	Spleen
44	chr19:42579600-42581000	Active TSS	Dnd41	blood
45	chr19:42579600-42581000	Active TSS	K562	blood
46	chr19:42579600-42581200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr19:42579600-42581200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:42579600-42581200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:42579600-42581200	Active TSS	Left Ventricle	heart
50	chr19:42579600-42581200	Active TSS	Lung	lung

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