Variant report

Variant	nsv438254
Chromosome Location	chr13:67512968-67520344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
2	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
3	chr13:67517858..67520029-chr13:67533541..67536022,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-14	chr13:67517880-67518119	NONHSAT034214

Extended variants
information (count: 154 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs9540949	chr13:67512968-67512969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190007379	chr13:67512994-67512995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181187736	chr13:67513023-67513024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115916145	chr13:67513055-67513056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540443937	chr13:67513070-67513071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565462231	chr13:67513083-67513084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9540950	chr13:67513090-67513091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562504041	chr13:67513091-67513092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148342672	chr13:67513100-67513101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140538278	chr13:67513106-67513107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185538025	chr13:67513140-67513141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112940951	chr13:67513214-67513215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564826448	chr13:67513231-67513232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574635836	chr13:67513250-67513251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550037118	chr13:67513252-67513253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35385470	chr13:67513257-67513258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34654816	chr13:67513282-67513283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569760681	chr13:67513283-67513284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112404570	chr13:67513297-67513298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201732999	chr13:67513315-67513316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371794475	chr13:67513339-67513340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549073242	chr13:67513348-67513349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565991386	chr13:67513355-67513356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534012853	chr13:67513416-67513417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78705270	chr13:67513445-67513446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374874291	chr13:67513448-67513449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576953158	chr13:67513467-67513468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539774175	chr13:67513468-67513469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35492055	chr13:67513502-67513503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556495736	chr13:67513506-67513507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370276859	chr13:67513556-67513557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141256412	chr13:67513557-67513558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59727350	chr13:67513583-67513584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59199272	chr13:67513589-67513590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57997772	chr13:67513590-67513591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576150239	chr13:67513609-67513610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189660174	chr13:67513618-67513619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561772509	chr13:67513655-67513656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536667354	chr13:67513693-67513694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554653284	chr13:67513694-67513695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199850240	chr13:67513696-67513697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572020239	chr13:67513737-67513738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541102938	chr13:67513741-67513742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369611135	chr13:67513744-67513745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569409798	chr13:67513754-67513755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533568025	chr13:67513759-67513760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369264166	chr13:67513766-67513767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28452869	chr13:67513897-67513898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550100405	chr13:67513917-67513918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530529990	chr13:67513933-67513934	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67508600-67513600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:67513600-67514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:67513600-67514400	Enhancers	HMEC	breast
4	chr13:67513600-67514800	Enhancers	HUVEC	blood vessel
5	chr13:67514200-67514600	Enhancers	A549	lung
6	chr13:67518200-67519200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:67518600-67519600	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:67518600-67519600	Enhancers	Dnd41	blood
9	chr13:67518800-67519400	Enhancers	Primary B cells from cord blood	blood
10	chr13:67519400-67520000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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