Variant report

Variant	esv3423291
Chromosome Location	chr13:95380651-95384849
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: 111 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569797177	chr13:95380657-95380658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565272427	chr13:95380700-95380701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531127498	chr13:95380720-95380721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535701186	chr13:95380723-95380724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8002851	chr13:95380746-95380747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529755462	chr13:95380759-95380760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546758010	chr13:95380772-95380773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566668401	chr13:95380817-95380818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532373999	chr13:95380892-95380893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140862684	chr13:95380947-95380948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376578957	chr13:95380988-95380989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150165278	chr13:95381009-95381010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191012044	chr13:95381016-95381017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9590060	chr13:95381077-95381078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567596427	chr13:95381081-95381082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114253169	chr13:95381108-95381109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138617069	chr13:95381137-95381138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572044930	chr13:95381140-95381141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183155990	chr13:95381149-95381150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149292030	chr13:95381162-95381163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541045013	chr13:95381178-95381179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369473802	chr13:95381185-95381186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185248822	chr13:95381196-95381197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560930579	chr13:95381205-95381206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373989342	chr13:95381222-95381223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111979994	chr13:95381255-95381256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368456270	chr13:95381291-95381292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190737747	chr13:95381332-95381333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182630295	chr13:95381334-95381335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554821023	chr13:95381359-95381360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377682631	chr13:95381378-95381379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371220697	chr13:95381409-95381410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560323065	chr13:95381452-95381453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557824178	chr13:95381465-95381466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577792402	chr13:95381488-95381489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111391929	chr13:95381523-95381524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562543395	chr13:95381528-95381529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143858158	chr13:95381557-95381558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116472362	chr13:95381568-95381569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567632312	chr13:95381590-95381591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147232640	chr13:95381619-95381620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546606802	chr13:95381654-95381655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566599718	chr13:95381713-95381714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568933738	chr13:95381741-95381742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538750044	chr13:95381767-95381768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559067862	chr13:95381774-95381775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188077622	chr13:95381775-95381776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374380034	chr13:95381813-95381814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538527638	chr13:95381821-95381822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117569086	chr13:95381851-95381852	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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