Variant report

Variant	esv3519075
Chromosome Location	chr13:80454760-80460250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547418806	chr13:80454777-80454778	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs373012733	chr13:80454897-80454898	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188480903	chr13:80454909-80454910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192752272	chr13:80454948-80454949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550333115	chr13:80454977-80454978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7325051	chr13:80454987-80454988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539240426	chr13:80455006-80455007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558949288	chr13:80455010-80455011	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572710648	chr13:80455043-80455044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369789099	chr13:80455055-80455056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571746091	chr13:80455131-80455132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554593003	chr13:80455138-80455139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138092175	chr13:80455172-80455173	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114800509	chr13:80455185-80455186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs28409293	chr13:80455230-80455231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536922242	chr13:80455256-80455257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79829710	chr13:80455264-80455265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545205148	chr13:80455267-80455268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538634205	chr13:80455284-80455285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs564984688	chr13:80455285-80455286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527630130	chr13:80455303-80455304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7326221	chr13:80455387-80455388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557363642	chr13:80455412-80455413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375059991	chr13:80455523-80455524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147215851	chr13:80455534-80455535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569746935	chr13:80455563-80455564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113976830	chr13:80455589-80455590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369991962	chr13:80455641-80455642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79630357	chr13:80455648-80455649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184039860	chr13:80455655-80455656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148623588	chr13:80455691-80455692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535028236	chr13:80455703-80455704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554529695	chr13:80455707-80455708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141125547	chr13:80455717-80455718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373490205	chr13:80455749-80455750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536904026	chr13:80455751-80455752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537069236	chr13:80455778-80455779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557143120	chr13:80455786-80455787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188427541	chr13:80455794-80455795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191351781	chr13:80455840-80455841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573468440	chr13:80455846-80455847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185088138	chr13:80455912-80455913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190339377	chr13:80455926-80455927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541365088	chr13:80455950-80455951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559589432	chr13:80455962-80455963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12584575	chr13:80456018-80456019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182232685	chr13:80456019-80456020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7320666	chr13:80456027-80456028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563188292	chr13:80456035-80456036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532283172	chr13:80456139-80456140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80449000-80472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80449400-80458800	Weak transcription	Thymus	Thymus
3	chr13:80452800-80457800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:80452800-80459000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:80454200-80455400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr13:80454400-80456200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr13:80454400-80456200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr13:80455400-80461400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr13:80456200-80458800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr13:80456200-80459200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr13:80456200-80461400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:80457400-80458000	Enhancers	Fetal Heart	heart
13	chr13:80457600-80459400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:80457800-80459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:80457800-80459400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:80458000-80459200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:80458200-80459400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:80458200-80459600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:80458400-80459400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:80458400-80459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:80458600-80459600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:80458600-80459600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:80458800-80459200	Enhancers	Thymus	Thymus
24	chr13:80458800-80459400	Enhancers	Primary hematopoietic stem cells	blood
25	chr13:80458800-80459600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:80458800-80461400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr13:80459000-80459200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:80459000-80459400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:80459000-80459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:80459000-80459400	Enhancers	Fetal Thymus	thymus
31	chr13:80459200-80459400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr13:80459200-80460800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:80459200-80461000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr13:80459400-80460600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:80459400-80460600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:80459400-80461200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr13:80459400-80461200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr13:80459400-80461200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr13:80459400-80461200	Weak transcription	Fetal Thymus	thymus
40	chr13:80459600-80460600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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