Variant report

Variant	esv2759933
Chromosome Location	chr13:40040036-40090742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:40041631..40044378-chr13:40049076..40051590,2	K562	blood:
2	chr13:40061815..40064290-chr13:40065605..40067303,2	K562	blood:
3	chr13:40041631..40044378-chr13:40049076..40051590,2	K562	blood:
4	chr13:40061815..40064290-chr13:40065605..40067303,2	K562	blood:

Extended variants
information (count: 1879 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1879 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10492735	chr13:40040036-40040037	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546647616	chr13:40040119-40040120	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73175147	chr13:40040131-40040132	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113376193	chr13:40040145-40040146	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140814185	chr13:40040169-40040170	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531461615	chr13:40040173-40040174	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369398297	chr13:40040196-40040197	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182894173	chr13:40040230-40040231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373579406	chr13:40040235-40040236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150140839	chr13:40040276-40040277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568112907	chr13:40040294-40040295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552105918	chr13:40040301-40040302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10492734	chr13:40040314-40040315	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534714981	chr13:40040315-40040316	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571172070	chr13:40040333-40040334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540128216	chr13:40040354-40040355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77155841	chr13:40040358-40040359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555721153	chr13:40040377-40040378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187837031	chr13:40040400-40040401	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191764933	chr13:40040487-40040488	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182620533	chr13:40040517-40040518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538131341	chr13:40040528-40040529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558443222	chr13:40040536-40040537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572477782	chr13:40040550-40040551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540044981	chr13:40040567-40040568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147786578	chr13:40040601-40040602	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141217429	chr13:40040617-40040618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545668467	chr13:40040644-40040645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576868878	chr13:40040647-40040648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562178405	chr13:40040649-40040650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531222289	chr13:40040703-40040704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115040547	chr13:40040710-40040711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545817586	chr13:40040752-40040753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6563706	chr13:40040785-40040786	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs573014931	chr13:40040843-40040844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74044068	chr13:40040917-40040918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556897448	chr13:40040962-40040963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376881488	chr13:40040971-40040972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548050764	chr13:40041084-40041085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371027289	chr13:40041122-40041123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571055178	chr13:40041155-40041156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541992498	chr13:40041159-40041160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550482317	chr13:40041196-40041197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561760675	chr13:40041202-40041203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187305352	chr13:40041205-40041206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192259074	chr13:40041207-40041208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530754621	chr13:40041216-40041217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544142250	chr13:40041219-40041220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78922057	chr13:40041238-40041239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572485099	chr13:40041296-40041297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:848 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40034000-40041200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:40037000-40051200	Weak transcription	Ovary	ovary
3	chr13:40037000-40053800	Weak transcription	Fetal Lung	lung
4	chr13:40037200-40043400	Weak transcription	Psoas Muscle	Psoas
5	chr13:40037200-40045000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:40037200-40045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:40037400-40045200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:40037400-40045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:40037400-40053400	Weak transcription	Aorta	Aorta
10	chr13:40038000-40043200	Weak transcription	Right Atrium	heart
11	chr13:40038000-40043200	Weak transcription	Right Ventricle	heart
12	chr13:40038200-40042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:40038400-40042200	Weak transcription	Fetal Heart	heart
14	chr13:40039800-40040200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:40039800-40040200	Genic enhancers	Left Ventricle	heart
16	chr13:40039800-40040800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:40040200-40043200	Weak transcription	Left Ventricle	heart
18	chr13:40040800-40045000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:40041200-40041400	Enhancers	NHDF-Ad	bronchial
20	chr13:40041200-40043400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:40041600-40057800	Weak transcription	NHDF-Ad	bronchial
22	chr13:40042000-40043600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:40042200-40042800	Enhancers	Fetal Heart	heart
24	chr13:40042400-40043000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:40042600-40043000	Enhancers	HUVEC	blood vessel
26	chr13:40042800-40047600	Weak transcription	Fetal Heart	heart
27	chr13:40043000-40048000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:40043200-40043600	Enhancers	Right Atrium	heart
29	chr13:40043200-40043800	Enhancers	Left Ventricle	heart
30	chr13:40043200-40044200	Enhancers	Right Ventricle	heart
31	chr13:40043400-40043600	Enhancers	Lung	lung
32	chr13:40043400-40043600	Enhancers	Psoas Muscle	Psoas
33	chr13:40043600-40045200	Weak transcription	Right Atrium	heart
34	chr13:40043600-40047800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:40043600-40068200	Weak transcription	Lung	lung
36	chr13:40043800-40047000	Weak transcription	Left Ventricle	heart
37	chr13:40044200-40048800	Weak transcription	Right Ventricle	heart
38	chr13:40045000-40045200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:40045000-40045600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:40045000-40046600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:40045200-40045400	Enhancers	Placenta Amnion	Placenta Amnion
42	chr13:40045200-40045600	Enhancers	Right Atrium	heart
43	chr13:40045400-40046000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:40045600-40046200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr13:40045600-40048800	Weak transcription	Right Atrium	heart
46	chr13:40046000-40058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:40046200-40046600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:40046400-40046800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:40046600-40047400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:40046600-40049400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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