Variant report

Variant	nsv974252
Chromosome Location	chr13:69541155-69546026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531478036	chr13:69541158-69541159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541726447	chr13:69541160-69541161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561508146	chr13:69541218-69541219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527487870	chr13:69541225-69541226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532523290	chr13:69541237-69541238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115453703	chr13:69541257-69541258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566831116	chr13:69541270-69541271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551008078	chr13:69541309-69541310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532675858	chr13:69541337-69541338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144095228	chr13:69541345-69541346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs59978700	chr13:69541497-69541498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199991286	chr13:69541516-69541517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67281366	chr13:69541517-69541518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569276505	chr13:69541520-69541521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538499251	chr13:69541525-69541526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151306120	chr13:69541528-69541529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147840396	chr13:69541529-69541530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141748447	chr13:69541530-69541531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555292046	chr13:69541563-69541564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1541199	chr13:69541608-69541609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534108350	chr13:69541616-69541617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554376572	chr13:69541641-69541642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12861761	chr13:69541659-69541660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530320481	chr13:69541663-69541664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12861765	chr13:69541665-69541666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576827684	chr13:69541687-69541688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545513022	chr13:69541692-69541693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181785699	chr13:69541750-69541751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146529682	chr13:69541776-69541777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1541198	chr13:69541797-69541798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201037349	chr13:69541811-69541812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147058946	chr13:69541812-69541813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201822052	chr13:69541815-69541816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377507212	chr13:69541818-69541819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141099427	chr13:69541851-69541852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1541197	chr13:69541871-69541872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540852292	chr13:69541927-69541928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369948395	chr13:69541964-69541965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76794225	chr13:69541972-69541973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532472838	chr13:69541977-69541978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186808254	chr13:69541981-69541982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111987235	chr13:69542031-69542032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73518002	chr13:69542052-69542053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs34663360	chr13:69542079-69542080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34437818	chr13:69542080-69542081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148786692	chr13:69542081-69542082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35199061	chr13:69542082-69542083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147123059	chr13:69542090-69542091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369883285	chr13:69542101-69542102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111364604	chr13:69542102-69542103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	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
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Myelofibrosis	22110671	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22737080	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:69540800-69541200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:69541200-69541600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:69541400-69542400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:69541600-69541800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:69541600-69543400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:69541800-69542000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:69541800-69542400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:69541800-69542400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:69541800-69544000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr13:69542000-69543800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:69542400-69543800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr13:69542400-69543800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:69543800-69545400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:69543800-69545600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr13:69543800-69545800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr13:69543800-69546200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:69543800-69546400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:69544000-69545800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:69544000-69546000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:69544200-69545600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr13:69544200-69545800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr13:69545400-69547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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