Variant report

Variant	nsv974243
Chromosome Location	chr13:93566186-93575260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531470568	chr13:93566227-93566228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557073131	chr13:93566252-93566253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548062489	chr13:93566268-93566269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531137176	chr13:93566271-93566272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527282713	chr13:93566392-93566393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150558514	chr13:93566395-93566396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376824178	chr13:93566396-93566397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114562186	chr13:93566407-93566408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79815956	chr13:93566417-93566418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs167389	chr13:93566426-93566427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539541965	chr13:93566452-93566453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550072980	chr13:93566460-93566461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568012378	chr13:93566462-93566463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543344847	chr13:93566465-93566466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375040810	chr13:93566466-93566467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186784330	chr13:93566495-93566496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112795329	chr13:93566496-93566497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9561189	chr13:93566498-93566499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368136013	chr13:93566525-93566526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544445308	chr13:93566535-93566536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371763158	chr13:93566536-93566537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373778158	chr13:93566539-93566540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558186526	chr13:93566584-93566585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9523829	chr13:93566627-93566628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543909916	chr13:93566661-93566662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9561190	chr13:93566666-93566667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368847077	chr13:93566678-93566679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs306667	chr13:93566689-93566690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561611462	chr13:93566696-93566697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527586439	chr13:93566697-93566698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546961921	chr13:93566732-93566733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191570587	chr13:93566743-93566744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549377295	chr13:93566794-93566795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9516141	chr13:93566808-93566809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528880876	chr13:93566825-93566826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150396279	chr13:93566865-93566866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569696104	chr13:93566873-93566874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536046454	chr13:93566965-93566966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186267332	chr13:93571606-93571607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9561193	chr13:93571623-93571624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs9561194	chr13:93571627-93571628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9523833	chr13:93571641-93571642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7991490	chr13:93571668-93571669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs571003704	chr13:93571675-93571676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539692588	chr13:93571683-93571684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190737514	chr13:93571695-93571696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576820481	chr13:93571707-93571708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75235429	chr13:93571722-93571723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs66730162	chr13:93571723-93571724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183416810	chr13:93571797-93571798	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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93565200-93566200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:93566200-93567000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:93571600-93571800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr13:93571800-93572200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:93572000-93573000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:93572000-93573400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:93573000-93573400	Enhancers	Pancreatic Islets	Pancreatic Islet

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