Variant report

Variant	nsv974092
Chromosome Location	chr13:53261895-53262658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373011287	chr13:53261900-53261901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35334260	chr13:53261920-53261921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140358727	chr13:53261935-53261936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376867541	chr13:53261936-53261937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144105255	chr13:53261938-53261939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369070090	chr13:53261947-53261948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373690427	chr13:53261950-53261951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186802245	chr13:53262001-53262002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559420984	chr13:53262003-53262004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs41292828	chr13:53262021-53262022	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541839061	chr13:53262083-53262084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562086903	chr13:53262132-53262133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2408657	chr13:53262175-53262176	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs368594374	chr13:53262180-53262181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375863593	chr13:53262202-53262203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111466614	chr13:53262217-53262218	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539644803	chr13:53262275-53262276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190401922	chr13:53262299-53262300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556078495	chr13:53262333-53262334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533568488	chr13:53262368-53262369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74368188	chr13:53262441-53262442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547169145	chr13:53262529-53262530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565795488	chr13:53262541-53262542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534679055	chr13:53262583-53262584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577066992	chr13:53262585-53262586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548234177	chr13:53262600-53262601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74088631	chr13:53262617-53262618	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536983995	chr13:53262625-53262626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557217213	chr13:53262627-53262628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149396286	chr13:53262638-53262639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Thoracic aortic aneurysm	21092924	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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53229000-53276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:53229200-53268000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:53230200-53263600	Weak transcription	Stomach Mucosa	stomach
4	chr13:53230400-53266400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:53230600-53266400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr13:53230800-53277400	Weak transcription	Gastric	stomach
7	chr13:53231200-53262400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr13:53231800-53266400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr13:53235200-53276000	Weak transcription	Right Ventricle	heart
10	chr13:53239200-53265600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:53240600-53264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:53240600-53275800	Weak transcription	K562	blood
13	chr13:53242800-53278600	Weak transcription	Psoas Muscle	Psoas
14	chr13:53245400-53263800	Strong transcription	Dnd41	blood
15	chr13:53245600-53263600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr13:53248400-53265200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr13:53248600-53263400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr13:53248600-53265200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:53249000-53263400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:53249000-53263400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr13:53249000-53263600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr13:53249000-53266400	Strong transcription	Liver	Liver
23	chr13:53249000-53266400	Strong transcription	Fetal Intestine Large	intestine
24	chr13:53249000-53266600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:53249000-53267400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:53249200-53263400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr13:53249200-53265200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:53249600-53262800	Strong transcription	Fetal Thymus	thymus
29	chr13:53249800-53266000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr13:53250000-53263800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:53250000-53265000	Weak transcription	Hela-S3	cervix
32	chr13:53250400-53262400	Strong transcription	Placenta	Placenta
33	chr13:53250400-53263400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:53250600-53263400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:53250800-53266600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:53251000-53263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr13:53251400-53267400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr13:53252400-53263000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:53253800-53263800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:53254200-53275800	Weak transcription	Fetal Heart	heart
41	chr13:53254800-53273600	Weak transcription	Fetal Kidney	kidney
42	chr13:53255800-53273800	Weak transcription	A549	lung
43	chr13:53255800-53277600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr13:53256000-53270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:53256000-53282600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr13:53256400-53269800	Weak transcription	Brain Substantia Nigra	brain
47	chr13:53256600-53266000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:53256600-53267200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:53256600-53297800	Weak transcription	Pancreas	Pancrea
50	chr13:53256800-53264800	Weak transcription	Muscle Satellite Cultured Cells	--

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