Variant report

Variant	nsv562731
Chromosome Location	chr13:93240822-93245600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93228704..93231280-chr13:93244636..93246589,2	K562	blood:
2	chr13:93239441..93241282-chr13:93243358..93246223,2	K562	blood:
3	chr13:93239441..93241282-chr13:93243358..93246223,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3901973	chr13:93240822-93240823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145893126	chr13:93240857-93240858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181325934	chr13:93240892-93240893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142686180	chr13:93240925-93240926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538885096	chr13:93240963-93240964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9589592	chr13:93240992-93240993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9561092	chr13:93241022-93241023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs554906145	chr13:93241030-93241031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537099622	chr13:93241031-93241032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557042630	chr13:93241034-93241035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146943670	chr13:93241052-93241053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184422930	chr13:93241081-93241082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3901972	chr13:93241085-93241086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3902386	chr13:93241129-93241130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567899374	chr13:93241136-93241137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544889598	chr13:93241154-93241155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138083097	chr13:93241188-93241189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530915058	chr13:93241189-93241190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544293340	chr13:93241203-93241204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560984975	chr13:93241234-93241235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3901971	chr13:93241250-93241251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547298333	chr13:93241258-93241259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567069533	chr13:93241259-93241260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532803089	chr13:93241312-93241313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552502810	chr13:93241321-93241322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190100184	chr13:93241364-93241365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537183794	chr13:93241381-93241382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557077575	chr13:93241393-93241394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567300323	chr13:93241402-93241403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370335764	chr13:93241415-93241416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182321781	chr13:93241416-93241417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552870868	chr13:93241422-93241423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117328956	chr13:93241515-93241516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573063455	chr13:93241542-93241543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545241953	chr13:93241549-93241550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187374090	chr13:93241572-93241573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374890672	chr13:93241576-93241577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149539596	chr13:93241580-93241581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77271653	chr13:93241587-93241588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191010194	chr13:93241687-93241688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143991318	chr13:93241700-93241701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9556193	chr13:93241730-93241731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4624030	chr13:93241744-93241745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76642612	chr13:93241749-93241750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180673017	chr13:93241773-93241774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563110991	chr13:93241781-93241782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531921148	chr13:93241798-93241799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78429585	chr13:93241819-93241820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142008449	chr13:93241834-93241835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373787223	chr13:93241902-93241903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93237200-93277400	Weak transcription	Right Atrium	heart
2	chr13:93242200-93242600	Enhancers	Hela-S3	cervix
3	chr13:93242200-93243600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:93242200-93243800	Enhancers	NH-A	brain
5	chr13:93242400-93242800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:93242400-93242800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:93242400-93243000	Enhancers	NHEK	skin
8	chr13:93242600-93243000	Flanking Active TSS	Hela-S3	cervix
9	chr13:93242600-93243600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:93242600-93243600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:93243000-93243600	Enhancers	Hela-S3	cervix

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