Variant report

Variant	nsv828565
Chromosome Location	chr19:45675351-45676048
allele	n/a
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	chr19:45663229..45667496-chr19:45672423..45675746,6	K562	blood:
2	chr19:45660357..45662141-chr19:45673721..45675839,2	MCF-7	breast:
3	chr19:45674624..45677350-chr19:45825375..45827077,2	K562	blood:
4	chr19:45667869..45670716-chr19:45675537..45677306,2	MCF-7	breast:
5	chr19:45675317..45679355-chr19:45679533..45681845,4	K562	blood:
6	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
7	chr19:45665456..45669944-chr19:45672662..45676859,4	MCF-7	breast:
8	chr19:45675726..45677672-chr19:45752421..45754832,2	MCF-7	breast:
9	chr19:45673701..45675733-chr19:45689481..45691712,2	MCF-7	breast:
10	chr19:45675481..45678583-chr19:45681504..45683285,3	K562	blood:
11	chr19:45663965..45672033-chr19:45672145..45675901,9	K562	blood:
12	chr19:45675822..45679295-chr19:45679475..45683800,7	MCF-7	breast:
13	chr19:45672317..45675503-chr19:45675709..45677747,4	K562	blood:
14	chr19:45672516..45674709-chr19:45674785..45678342,3	MCF-7	breast:
15	chr19:45662986..45665751-chr19:45672149..45675841,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267545	chromatin interactions
ENSG00000266958	chromatin interactions
ENSG00000104879	chromatin interactions
ENSG00000007255	chromatin interactions
ENSG00000179846	chromatin interactions
ENSG00000189114	chromatin interactions
ENSG00000007047	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149874439	chr19:45675354-45675355	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs568599030	chr19:45675360-45675361	Weak transcription Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs373097996	chr19:45675409-45675410	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs560100077	chr19:45675422-45675423	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs528833577	chr19:45675436-45675437	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543326140	chr19:45675522-45675523	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs2377007	chr19:45675529-45675530	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs55693139	chr19:45675589-45675590	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs531975068	chr19:45675612-45675613	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs551980864	chr19:45675615-45675616	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs571816475	chr19:45675625-45675626	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs187288407	chr19:45675629-45675630	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs547864676	chr19:45675642-45675643	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs567673569	chr19:45675721-45675722	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs536219333	chr19:45675804-45675805	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs531629120	chr19:45675844-45675845	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs555669193	chr19:45675847-45675848	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs543487485	chr19:45675849-45675850	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs550661533	chr19:45675852-45675853	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs569036497	chr19:45675858-45675859	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs7247764	chr19:45675873-45675874	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147570048	chr19:45675911-45675912	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs529429856	chr19:45675965-45675966	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs577379866	chr19:45675977-45675978	Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs192278798	chr19:45676027-45676028	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45665400-45680400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:45665400-45680600	Weak transcription	Fetal Lung	lung
3	chr19:45665600-45680400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:45665800-45680200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:45665800-45680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:45667400-45681000	Weak transcription	Aorta	Aorta
7	chr19:45668000-45680600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:45668200-45676000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:45668400-45675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:45668400-45676800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:45668400-45680400	Weak transcription	Fetal Intestine Large	intestine
12	chr19:45668400-45680600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:45668400-45680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:45668600-45675600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:45668600-45679000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:45668800-45680400	Weak transcription	Brain Anterior Caudate	brain
17	chr19:45668800-45680400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:45669000-45680200	Weak transcription	Fetal Brain Female	brain
19	chr19:45670200-45680200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:45670200-45680400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr19:45670400-45675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:45670400-45675600	Weak transcription	Right Atrium	heart
23	chr19:45670400-45675800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:45670600-45680400	Weak transcription	Brain Angular Gyrus	brain
25	chr19:45670600-45680400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:45670800-45675600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:45670800-45680400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:45671600-45677600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:45672400-45677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:45672400-45680800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr19:45672600-45677800	Enhancers	Primary hematopoietic stem cells	blood
32	chr19:45673000-45675600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:45673600-45675600	Weak transcription	Fetal Stomach	stomach
34	chr19:45673600-45676200	Enhancers	Placenta	Placenta
35	chr19:45673600-45678000	Enhancers	Fetal Thymus	thymus
36	chr19:45673800-45676000	Enhancers	Adipose Nuclei	Adipose
37	chr19:45673800-45676200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:45673800-45676400	Enhancers	Stomach Mucosa	stomach
39	chr19:45673800-45680400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:45674000-45677600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:45674000-45677800	Enhancers	Primary B cells from cord blood	blood
42	chr19:45674000-45678000	Enhancers	GM12878-XiMat	blood
43	chr19:45674200-45675400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr19:45674200-45675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:45674200-45675600	Weak transcription	Colonic Mucosa	Colon
46	chr19:45674200-45675600	Weak transcription	Fetal Intestine Small	intestine
47	chr19:45674200-45675600	Weak transcription	Gastric	stomach
48	chr19:45674200-45675600	Weak transcription	Lung	lung
49	chr19:45674200-45675600	Weak transcription	Pancreas	Pancrea
50	chr19:45674200-45675600	Weak transcription	HMEC	breast

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