Variant report

Variant	nsv523903
Chromosome Location	chr13:55552706-55554303
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-6	chr13:55553445-55553526	XLOC_010401

Extended variants
information (count: 65 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs54939	chr13:55552706-55552707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115105046	chr13:55552714-55552715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147873973	chr13:55552741-55552742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs5803718	chr13:55552786-55552787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34134442	chr13:55552787-55552788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200458881	chr13:55552789-55552790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373823278	chr13:55552790-55552791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386379244	chr13:55552797-55552798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59175572	chr13:55552800-55552801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529754356	chr13:55552803-55552804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549790787	chr13:55552837-55552838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12583072	chr13:55552879-55552880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs548828217	chr13:55552885-55552886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113102451	chr13:55552886-55552887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537004989	chr13:55552921-55552922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371450003	chr13:55552929-55552930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148528000	chr13:55552960-55552961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377242179	chr13:55552965-55552966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570251285	chr13:55552995-55552996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182435988	chr13:55553048-55553049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540827474	chr13:55553049-55553050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553130663	chr13:55553084-55553085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61250747	chr13:55553112-55553113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs263830	chr13:55553113-55553114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141580110	chr13:55553215-55553216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555609926	chr13:55553227-55553228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574746831	chr13:55553259-55553260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147056160	chr13:55553270-55553271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9536931	chr13:55553277-55553278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs532700657	chr13:55553290-55553291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547535266	chr13:55553334-55553335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563402917	chr13:55553346-55553347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530492069	chr13:55553353-55553354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369901093	chr13:55553356-55553357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113458194	chr13:55553404-55553405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114260415	chr13:55553470-55553471	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs560003644	chr13:55553481-55553482	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs528669083	chr13:55553482-55553483	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548603883	chr13:55553521-55553522	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs185916790	chr13:55553542-55553543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536687269	chr13:55553546-55553547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556559486	chr13:55553572-55553573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190629935	chr13:55553598-55553599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372190159	chr13:55553657-55553658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550595397	chr13:55553662-55553663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570090165	chr13:55553678-55553679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73204646	chr13:55553715-55553716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149288014	chr13:55553796-55553797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566353602	chr13:55553797-55553798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576697187	chr13:55553835-55553836	Enhancers	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	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
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:55550200-55553400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr13:55553200-55554200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr13:55553400-55554400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:55553800-55554200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:55554000-55555800	Enhancers	Dnd41	blood

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