Variant report

Variant	nsv521051
Chromosome Location	chr13:93284783-93289163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:93282740..93284834-chr13:93292372..93295262,2	K562	blood:
2	chr13:93281728..93283800-chr13:93286450..93288614,2	K562	blood:
3	chr13:93289108..93290701-chr13:93292511..93295289,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543386679	chr13:93287804-93287805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553282145	chr13:93287917-93287918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573034611	chr13:93287962-93287963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369736030	chr13:93287997-93287998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557200795	chr13:93288033-93288034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148111329	chr13:93288098-93288099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9556198	chr13:93288119-93288120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532933223	chr13:93288229-93288230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577181275	chr13:93288270-93288271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575483970	chr13:93288274-93288275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182769886	chr13:93288293-93288294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561326346	chr13:93288407-93288408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574926535	chr13:93288448-93288449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376897415	chr13:93288456-93288457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560867427	chr13:93288498-93288499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532678929	chr13:93288504-93288505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542379319	chr13:93288521-93288522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552800158	chr13:93288536-93288537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9584052	chr13:93288565-93288566	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs144565041	chr13:93288575-93288576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202056700	chr13:93288587-93288588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141897406	chr13:93288654-93288655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550268252	chr13:93288661-93288662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187451507	chr13:93288678-93288679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117395302	chr13:93288745-93288746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116180609	chr13:93288776-93288777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192411855	chr13:93288797-93288798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185833801	chr13:93288811-93288812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56318693	chr13:93288895-93288896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397715937	chr13:93288897-93288898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9516104	chr13:93288934-93288935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs373288101	chr13:93288936-93288937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187575288	chr13:93288946-93288947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551016371	chr13:93288957-93288958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192812103	chr13:93288962-93288963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538030677	chr13:93288984-93288985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4435099	chr13:93288992-93288993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93287800-93289000	Enhancers	Fetal Heart	heart
2	chr13:93288400-93288800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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