Variant report

Variant	esv2650286
Chromosome Location	chr13:92278301-92279948
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	chr13:92277162..92279157-chr13:92289932..92291613,2	K562	blood:
2	chr13:92275474..92278880-chr13:92281265..92284500,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181457825	chr13:92278312-92278313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564851432	chr13:92278323-92278324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529690505	chr13:92278325-92278326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186588316	chr13:92278378-92278379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61966918	chr13:92278385-92278386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536402629	chr13:92278397-92278398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190263207	chr13:92278398-92278399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113714541	chr13:92278401-92278402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139120784	chr13:92278451-92278452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558548434	chr13:92278505-92278506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575197610	chr13:92278507-92278508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77874423	chr13:92278536-92278537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554999131	chr13:92278565-92278566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574833069	chr13:92278572-92278573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115527450	chr13:92278579-92278580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560504642	chr13:92278584-92278585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553790909	chr13:92278603-92278604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79825477	chr13:92278612-92278613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545808186	chr13:92278665-92278666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546492875	chr13:92278701-92278702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9589315	chr13:92278702-92278703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530479197	chr13:92278715-92278716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373153661	chr13:92278754-92278755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550699620	chr13:92278764-92278765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376129353	chr13:92278773-92278774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561087005	chr13:92278776-92278777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529745005	chr13:92278835-92278836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11839390	chr13:92278840-92278841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539983622	chr13:92278914-92278915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560180037	chr13:92278917-92278918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552008934	chr13:92278943-92278944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568913019	chr13:92278967-92278968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9589316	chr13:92278972-92278973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140898853	chr13:92278979-92278980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149680113	chr13:92279006-92279007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181857766	chr13:92279027-92279028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530916031	chr13:92279036-92279037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554366275	chr13:92279045-92279046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577479223	chr13:92279114-92279115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113926645	chr13:92279142-92279143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148869603	chr13:92279170-92279171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576806673	chr13:92279230-92279231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544267872	chr13:92279231-92279232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560709464	chr13:92279232-92279233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186417520	chr13:92279235-92279236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539911876	chr13:92279236-92279237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560302124	chr13:92279239-92279240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76509634	chr13:92279260-92279261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201952133	chr13:92279265-92279266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532046810	chr13:92279394-92279395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Small bowel adenocarcinoma	21586687	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	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	chr13:92275800-92282000	Weak transcription	Hela-S3	cervix

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