Variant report

Variant	esv3354859
Chromosome Location	chr13:95382251-95386549
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	chr13:95382182..95383741-chr13:95400330..95402335,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546543758	chr13:95382284-95382285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566536965	chr13:95382294-95382295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538737750	chr13:95382303-95382304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571335220	chr13:95382317-95382318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552436948	chr13:95382327-95382328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569410546	chr13:95382333-95382334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111985814	chr13:95382341-95382342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183154824	chr13:95382357-95382358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149807616	chr13:95382403-95382404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534496928	chr13:95382438-95382439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187447462	chr13:95382443-95382444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368430899	chr13:95382469-95382470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545865286	chr13:95382470-95382471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556021237	chr13:95382478-95382479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569785855	chr13:95382487-95382488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535313768	chr13:95382502-95382503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561550437	chr13:95382519-95382520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527541268	chr13:95382520-95382521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555603380	chr13:95382523-95382524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565966305	chr13:95382548-95382549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540968896	chr13:95382567-95382568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560111107	chr13:95382586-95382587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532399070	chr13:95382588-95382589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372165601	chr13:95382595-95382596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192692573	chr13:95382600-95382601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569217866	chr13:95382628-95382629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531852857	chr13:95382646-95382647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548445959	chr13:95382676-95382677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534946420	chr13:95382682-95382683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144383414	chr13:95382706-95382707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554536583	chr13:95382768-95382769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184884000	chr13:95382786-95382787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12867959	chr13:95382806-95382807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs577755146	chr13:95382829-95382830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576009178	chr13:95382839-95382840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543461835	chr13:95382843-95382844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555133160	chr13:95382931-95382932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571957585	chr13:95383048-95383049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578103353	chr13:95383094-95383095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564073979	chr13:95383121-95383122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188887720	chr13:95383130-95383131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201686808	chr13:95383131-95383132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192328784	chr13:95383136-95383137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562901840	chr13:95383167-95383168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115790090	chr13:95383173-95383174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35045320	chr13:95383177-95383178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556780131	chr13:95383196-95383197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117849500	chr13:95383199-95383200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95379200-95383200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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