Variant report

Variant	esv3406817
Chromosome Location	chr13:66022576-66025124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369431141	chr13:66022590-66022591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572987574	chr13:66022595-66022596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545226448	chr13:66022641-66022642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565126194	chr13:66022655-66022656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149227625	chr13:66022656-66022657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35382148	chr13:66022658-66022659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373535034	chr13:66022673-66022674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550992005	chr13:66022691-66022692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77682223	chr13:66022698-66022699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9571404	chr13:66022703-66022704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373278774	chr13:66022704-66022705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528896836	chr13:66022715-66022716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548982831	chr13:66022728-66022729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565807769	chr13:66022741-66022742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9670877	chr13:66022746-66022747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551644747	chr13:66022768-66022769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571477406	chr13:66022788-66022789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117819803	chr13:66022800-66022801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190690431	chr13:66022878-66022879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369796991	chr13:66022881-66022882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559632789	chr13:66022883-66022884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143384212	chr13:66022948-66022949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182455147	chr13:66022952-66022953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573050083	chr13:66022999-66023000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148363591	chr13:66023046-66023047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564989155	chr13:66023061-66023062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141517906	chr13:66023067-66023068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544754451	chr13:66023107-66023108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376084446	chr13:66023131-66023132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530396711	chr13:66023143-66023144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370456778	chr13:66023158-66023159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559380754	chr13:66023162-66023163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528052901	chr13:66023163-66023164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147710222	chr13:66023172-66023173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34358881	chr13:66023173-66023174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199524590	chr13:66023175-66023176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139474587	chr13:66023185-66023186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59029751	chr13:66023188-66023189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551505773	chr13:66023241-66023242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571293419	chr13:66023253-66023254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536868262	chr13:66023275-66023276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368340724	chr13:66023295-66023296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372304089	chr13:66023327-66023328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375316707	chr13:66023359-66023360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367885708	chr13:66023391-66023392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371418340	chr13:66023423-66023424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187149749	chr13:66023674-66023675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189591145	chr13:66023677-66023678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182668679	chr13:66023680-66023681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113850519	chr13:66023700-66023701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	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
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66010200-66031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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