Variant report

Variant	nsv562733
Chromosome Location	chr13:93243648-93245482
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	chr13:93239441..93241282-chr13:93243358..93246223,2	K562	blood:
2	chr13:93228704..93231280-chr13:93244636..93246589,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17267214	chr13:93243648-93243649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192531534	chr13:93243681-93243682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183660828	chr13:93243682-93243683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572706773	chr13:93243741-93243742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541358566	chr13:93243744-93243745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557970744	chr13:93243763-93243764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577801390	chr13:93243793-93243794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545525120	chr13:93243797-93243798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373748876	chr13:93243798-93243799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562267587	chr13:93243807-93243808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11620216	chr13:93243817-93243818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534124638	chr13:93243856-93243857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80069440	chr13:93243895-93243896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200785371	chr13:93243951-93243952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561477149	chr13:93243973-93243974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78724684	chr13:93243974-93243975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186873749	chr13:93243977-93243978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138665351	chr13:93243978-93243979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191703189	chr13:93244007-93244008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141719131	chr13:93244045-93244046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570178307	chr13:93244056-93244057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535536746	chr13:93244060-93244061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146256181	chr13:93244077-93244078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184292481	chr13:93244116-93244117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565927361	chr13:93244148-93244149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535362926	chr13:93244157-93244158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138307019	chr13:93244162-93244163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190193755	chr13:93244180-93244181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370241809	chr13:93244199-93244200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142860560	chr13:93244203-93244204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546348433	chr13:93244243-93244244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144197956	chr13:93244254-93244255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541556493	chr13:93244321-93244322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561761374	chr13:93244335-93244336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181891405	chr13:93244339-93244340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571928259	chr13:93244363-93244364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185290518	chr13:93244383-93244384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564394675	chr13:93244419-93244420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533228108	chr13:93244448-93244449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113378372	chr13:93244504-93244505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563426290	chr13:93244527-93244528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190215906	chr13:93244533-93244534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142439175	chr13:93244549-93244550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566094771	chr13:93244602-93244603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150898937	chr13:93244609-93244610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551330155	chr13:93244616-93244617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571618478	chr13:93244625-93244626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181941022	chr13:93244640-93244641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537302615	chr13:93244676-93244677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56019763	chr13:93244689-93244690	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93237200-93277400	Weak transcription	Right Atrium	heart
2	chr13:93242200-93243800	Enhancers	NH-A	brain

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