Variant report

Variant	esv3340208
Chromosome Location	chr13:93189976-93192524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
2	chr13:93188469..93192072-chr13:93192259..93196384,5	K562	blood:
3	chr13:93188720..93192275-chr13:93193713..93196877,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373116560	chr13:93190034-93190035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376051090	chr13:93190050-93190051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9301818	chr13:93190051-93190052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149871901	chr13:93190065-93190066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144916209	chr13:93190071-93190072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565080246	chr13:93190081-93190082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575563390	chr13:93190084-93190085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12874576	chr13:93190093-93190094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148688214	chr13:93190095-93190096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367710364	chr13:93190121-93190122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530238868	chr13:93190146-93190147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540398524	chr13:93190158-93190159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533331049	chr13:93190242-93190243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34832811	chr13:93190248-93190249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531740633	chr13:93190287-93190288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370673960	chr13:93190331-93190332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532441130	chr13:93190341-93190342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565576177	chr13:93190373-93190374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552536780	chr13:93190420-93190421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193028484	chr13:93190436-93190437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531842619	chr13:93190438-93190439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548388587	chr13:93190445-93190446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568345101	chr13:93190467-93190468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79031929	chr13:93190480-93190481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34209592	chr13:93190487-93190488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397795382	chr13:93190489-93190490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544314505	chr13:93190490-93190491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185766445	chr13:93190522-93190523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566560264	chr13:93190530-93190531	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93189600-93190600	Enhancers	Fetal Intestine Large	intestine
2	chr13:93189800-93190600	Enhancers	Fetal Intestine Small	intestine

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