Variant report

Variant	esv2761811
Chromosome Location	chr13:93545188-93556876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547989375	chr13:93546603-93546604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551382720	chr13:93546614-93546615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139921356	chr13:93546629-93546630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565473868	chr13:93546653-93546654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537156959	chr13:93546661-93546662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191843340	chr13:93546670-93546671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567862203	chr13:93546687-93546688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75254216	chr13:93546697-93546698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553379926	chr13:93546703-93546704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145612822	chr13:93546767-93546768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4586294	chr13:93546788-93546789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17267425	chr13:93546797-93546798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575300992	chr13:93546799-93546800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544323968	chr13:93546800-93546801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563099423	chr13:93546830-93546831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375304350	chr13:93546848-93546849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61974525	chr13:93546883-93546884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147747814	chr13:93546938-93546939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377369022	chr13:93546964-93546965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559362520	chr13:93547013-93547014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528419408	chr13:93547027-93547028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551053056	chr13:93547030-93547031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571240372	chr13:93547054-93547055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530572910	chr13:93547165-93547166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575342237	chr13:93547176-93547177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142502740	chr13:93547177-93547178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9556234	chr13:93547182-93547183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35444799	chr13:93547210-93547211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199920953	chr13:93547270-93547271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56082216	chr13:93547276-93547277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556162577	chr13:93547277-93547278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201000034	chr13:93547279-93547280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572495851	chr13:93547281-93547282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550071429	chr13:93547283-93547284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201084455	chr13:93547285-93547286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398023965	chr13:93547300-93547301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183432499	chr13:93547340-93547341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186200956	chr13:93547384-93547385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567039167	chr13:93547485-93547486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189830202	chr13:93547510-93547511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565666353	chr13:93547517-93547518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539334866	chr13:93547530-93547531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558652266	chr13:93547548-93547549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544214357	chr13:93547570-93547571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544262346	chr13:93547591-93547592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143354675	chr13:93547703-93547704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151308246	chr13:93547704-93547705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140770181	chr13:93547711-93547712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202242949	chr13:93547715-93547716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9523820	chr13:93547752-93547753	Enhancers	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93546600-93547200	Enhancers	Fetal Stomach	stomach
2	chr13:93546600-93547800	Enhancers	Fetal Lung	lung
3	chr13:93552600-93553000	Enhancers	NH-A	brain
4	chr13:93553000-93554000	Weak transcription	NH-A	brain
5	chr13:93554200-93554400	Enhancers	NH-A	brain

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