Variant report

Variant	esv3429522
Chromosome Location	chr13:48853952-48855225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48851960..48854495-chr13:48874913..48877525,3	K562	blood:
2	chr13:48796669..48798523-chr13:48852161..48854469,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148709975	chr13:48853978-48853979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570854250	chr13:48854006-48854007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534877810	chr13:48854022-48854023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553539597	chr13:48854028-48854029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4942760	chr13:48854050-48854051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79636411	chr13:48854085-48854086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142042459	chr13:48854107-48854108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535561518	chr13:48854109-48854110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556651381	chr13:48854144-48854145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190593246	chr13:48854201-48854202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545842222	chr13:48854300-48854301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547054825	chr13:48854357-48854358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369432812	chr13:48854370-48854371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558082273	chr13:48854376-48854377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567032772	chr13:48854387-48854388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554973798	chr13:48854388-48854389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187108413	chr13:48854425-48854426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115389076	chr13:48854471-48854472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542293889	chr13:48854510-48854511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34217484	chr13:48854550-48854551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs555886064	chr13:48854573-48854574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143667991	chr13:48854590-48854591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371020566	chr13:48854604-48854605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201198607	chr13:48854605-48854606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543091578	chr13:48854614-48854615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148077491	chr13:48854646-48854647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9568026	chr13:48854647-48854648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs150628857	chr13:48854655-48854656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190113896	chr13:48854684-48854685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568655442	chr13:48854741-48854742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371151429	chr13:48854752-48854753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535704773	chr13:48854815-48854816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557000079	chr13:48854819-48854820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140153718	chr13:48854838-48854839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539433176	chr13:48854904-48854905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115412647	chr13:48854969-48854970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116759241	chr13:48854983-48854984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540534572	chr13:48854984-48854985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572646879	chr13:48855020-48855021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7983535	chr13:48855073-48855074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142132044	chr13:48855079-48855080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146402829	chr13:48855080-48855081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563432557	chr13:48855102-48855103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530921048	chr13:48855103-48855104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	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
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
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	17237825	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:48844400-48857600	Weak transcription	HSMMtube	muscle
3	chr13:48844400-48877200	Weak transcription	Aorta	Aorta
4	chr13:48853400-48857000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:48853400-48860400	Weak transcription	Brain Substantia Nigra	brain
6	chr13:48853800-48854200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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