Variant report

Variant	esv3397337
Chromosome Location	chr13:38914852-38918050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:
2	chr13:38913197..38918401-chr13:38928849..38932713,4	K562	blood:
3	chr13:38917886..38920151-chr13:38925868..38928712,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UFM1-6	chr13:38916887-38917605	NONHSAT033267
2	lnc-UFM1-7	chr13:38916472-38916822	NONHSAT033266
3	lnc-UFM1-8	chr13:38915263-38915802	NONHSAT033265

No data

Extended variants
information (count: 100 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12870447	chr13:38914879-38914880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575635092	chr13:38914911-38914912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544732246	chr13:38914924-38914925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185355722	chr13:38915005-38915006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141303461	chr13:38915020-38915021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558016939	chr13:38915049-38915050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77980089	chr13:38915050-38915051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539998075	chr13:38915090-38915091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532693765	chr13:38915114-38915115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560047709	chr13:38915131-38915132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190232065	chr13:38915250-38915251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562779715	chr13:38915334-38915335	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs530517690	chr13:38915378-38915379	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs143284773	chr13:38915420-38915421	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs567258505	chr13:38915476-38915477	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs148259445	chr13:38915477-38915478	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs546642138	chr13:38915504-38915505	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs114622894	chr13:38915507-38915508	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538970008	chr13:38915516-38915517	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs539786672	chr13:38915542-38915543	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs182413147	chr13:38915554-38915555	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs141247966	chr13:38915583-38915584	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs569082907	chr13:38915635-38915636	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs367889488	chr13:38915661-38915662	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555008808	chr13:38915731-38915732	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574853446	chr13:38915752-38915753	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs66524039	chr13:38915800-38915801	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs147834037	chr13:38915802-38915803	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs150201718	chr13:38915803-38915804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79227314	chr13:38915805-38915806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140394056	chr13:38915806-38915807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2496468	chr13:38915870-38915871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs186592198	chr13:38915938-38915939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77494411	chr13:38915976-38915977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372346216	chr13:38916059-38916060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561698802	chr13:38916075-38916076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11839922	chr13:38916078-38916079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562845964	chr13:38916101-38916102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150807606	chr13:38916149-38916150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138215938	chr13:38916156-38916157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542073206	chr13:38916174-38916175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143705916	chr13:38916196-38916197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543880302	chr13:38916219-38916220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529781194	chr13:38916248-38916249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188252490	chr13:38916287-38916288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560232179	chr13:38916428-38916429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532444661	chr13:38916474-38916475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552457201	chr13:38916491-38916492	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs180994954	chr13:38916560-38916561	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs78839434	chr13:38916564-38916565	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38902800-38919600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:38910600-38915400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:38910800-38920200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:38911000-38920200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:38913600-38920200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:38914600-38915800	Enhancers	K562	blood
7	chr13:38915200-38915800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:38915200-38916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:38915400-38915600	Enhancers	Gastric	stomach
10	chr13:38915400-38915800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:38915600-38915800	Enhancers	Stomach Mucosa	stomach
12	chr13:38915800-38920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:38915800-38922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:38915800-38922800	Weak transcription	Stomach Mucosa	stomach

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