Variant report

Variant	rs551146323
Chromosome Location	chr19:42774146-42774147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42720638..42724432-chr19:42771891..42775014,4	MCF-7	breast:
2	chr19:42774007..42775893-chr19:42829806..42832465,2	K562	blood:
3	chr19:42773801..42775756-chr19:42804416..42807088,2	K562	blood:
4	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
5	chr12:120729494..120731830-chr19:42774117..42775700,2	MCF-7	breast:
6	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268643	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000167625	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000105429	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
15	nsv828552	chr19:42764336-42774166	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
20	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
21	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
22	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42771800-42774200	Active TSS	NHDF-Ad	bronchial
2	chr19:42771800-42775400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:42772000-42774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:42772000-42774200	Active TSS	Left Ventricle	heart
5	chr19:42772000-42774400	Active TSS	Lung	lung
6	chr19:42772000-42774400	Active TSS	Ovary	ovary
7	chr19:42772000-42774400	Active TSS	HSMMtube	muscle
8	chr19:42772000-42774800	Active TSS	Right Atrium	heart
9	chr19:42772000-42775200	Active TSS	Psoas Muscle	Psoas
10	chr19:42772000-42775400	Active TSS	Aorta	Aorta
11	chr19:42772200-42774200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:42772200-42774200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:42772200-42774200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:42772200-42774200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr19:42772200-42774200	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr19:42772200-42774200	Active TSS	NHLF	lung
17	chr19:42772200-42774400	Active TSS	K562	blood
18	chr19:42772200-42774800	Active TSS	Gastric	stomach
19	chr19:42772200-42775200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:42772200-42775200	Active TSS	Fetal Kidney	kidney
21	chr19:42772400-42774200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:42772400-42774400	Active TSS	Liver	Liver
23	chr19:42772400-42774400	Active TSS	Pancreas	Pancrea
24	chr19:42772400-42775000	Active TSS	HSMM	muscle
25	chr19:42773400-42774400	Active TSS	Small Intestine	intestine
26	chr19:42773600-42775200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr19:42773600-42775200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:42773600-42775200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr19:42773600-42775400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:42773600-42775600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:42773600-42775800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:42773600-42776000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:42773800-42774200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:42773800-42774200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:42773800-42774200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:42773800-42774200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr19:42773800-42774200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:42773800-42774200	Flanking Active TSS	Fetal Brain Male	brain
39	chr19:42773800-42774200	Active TSS	Stomach Mucosa	stomach
40	chr19:42773800-42774200	Bivalent/Poised TSS	HepG2	liver
41	chr19:42773800-42774400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:42773800-42774600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
43	chr19:42773800-42774600	Flanking Active TSS	Osteobl	bone
44	chr19:42773800-42774800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:42773800-42774800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:42773800-42774800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:42773800-42774800	Flanking Active TSS	Fetal Stomach	stomach
48	chr19:42773800-42775000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:42773800-42775000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr19:42773800-42775000	Flanking Active TSS	Fetal Lung	lung

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