Variant report

Variant	rs550985613
Chromosome Location	chr19:42773978-42773979
allele	A/G
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	chr19:42773801..42775756-chr19:42804416..42807088,2	K562	blood:
3	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
4	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188368	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000167625	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:126 , 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	chr19:42772000-42774000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:42772000-42774000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:42772000-42774000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:42772000-42774000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:42772000-42774000	Active TSS	Esophagus	oesophagus
8	chr19:42772000-42774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:42772000-42774200	Active TSS	Left Ventricle	heart
10	chr19:42772000-42774400	Active TSS	Lung	lung
11	chr19:42772000-42774400	Active TSS	Ovary	ovary
12	chr19:42772000-42774400	Active TSS	HSMMtube	muscle
13	chr19:42772000-42774800	Active TSS	Right Atrium	heart
14	chr19:42772000-42775200	Active TSS	Psoas Muscle	Psoas
15	chr19:42772000-42775400	Active TSS	Aorta	Aorta
16	chr19:42772200-42774000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr19:42772200-42774000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:42772200-42774000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:42772200-42774000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:42772200-42774000	Active TSS	Primary T cells from cord blood	blood
21	chr19:42772200-42774000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr19:42772200-42774000	Active TSS	Brain Angular Gyrus	brain
23	chr19:42772200-42774000	Active TSS	Brain Anterior Caudate	brain
24	chr19:42772200-42774000	Active TSS	Brain Hippocampus Middle	brain
25	chr19:42772200-42774000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:42772200-42774000	Active TSS	Brain Substantia Nigra	brain
27	chr19:42772200-42774000	Active TSS	Colon Smooth Muscle	Colon
28	chr19:42772200-42774000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:42772200-42774200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:42772200-42774200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:42772200-42774200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr19:42772200-42774200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:42772200-42774200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr19:42772200-42774200	Active TSS	NHLF	lung
35	chr19:42772200-42774400	Active TSS	K562	blood
36	chr19:42772200-42774800	Active TSS	Gastric	stomach
37	chr19:42772200-42775200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:42772200-42775200	Active TSS	Fetal Kidney	kidney
39	chr19:42772400-42774000	Active TSS	H1 Cell Line	embryonic stem cell
40	chr19:42772400-42774000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:42772400-42774000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:42772400-42774000	Active TSS	Colonic Mucosa	Colon
43	chr19:42772400-42774000	Active TSS	Duodenum Mucosa	Duodenum
44	chr19:42772400-42774000	Active TSS	Fetal Intestine Small	intestine
45	chr19:42772400-42774000	Active TSS	Right Ventricle	heart
46	chr19:42772400-42774000	Active TSS	Stomach Smooth Muscle	stomach
47	chr19:42772400-42774000	Active TSS	Thymus	Thymus
48	chr19:42772400-42774000	Active TSS	GM12878-XiMat	blood
49	chr19:42772400-42774000	Active TSS	HMEC	breast
50	chr19:42772400-42774000	Active TSS	NHEK	skin

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