Variant report

Variant	nsv976237
Chromosome Location	chr13:54437958-54444995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:54411879..54413790-chr13:54440349..54442010,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFM4-3	chr13:54444600-54444662	ENSG00000261517.1

Extended variants
information (count: 198 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs559291695	chr13:54437970-54437971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191920835	chr13:54439812-54439813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532825609	chr13:54439822-54439823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115133162	chr13:54439879-54439880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113696144	chr13:54439933-54439934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560737509	chr13:54439950-54439951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116860583	chr13:54439955-54439956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183925822	chr13:54439971-54439972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374438445	chr13:54440043-54440044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148914964	chr13:54440064-54440065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375769990	chr13:54440153-54440154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551612025	chr13:54440163-54440164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370805912	chr13:54440215-54440216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143598493	chr13:54440265-54440266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186739694	chr13:54440315-54440316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576617219	chr13:54440375-54440376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533914649	chr13:54440395-54440396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189543105	chr13:54440413-54440414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566390117	chr13:54440414-54440415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182561918	chr13:54440462-54440463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76051931	chr13:54440466-54440467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148043515	chr13:54440497-54440498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544281914	chr13:54440553-54440554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548132154	chr13:54440575-54440576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577688311	chr13:54440586-54440587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112352749	chr13:54440638-54440639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144748949	chr13:54440639-54440640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372560397	chr13:54440660-54440661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138880784	chr13:54440674-54440675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543389496	chr13:54440696-54440697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563075768	chr13:54440729-54440730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200547627	chr13:54440757-54440758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551973641	chr13:54440851-54440852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566342787	chr13:54440852-54440853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117952302	chr13:54440856-54440857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547377247	chr13:54440862-54440863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113908317	chr13:54440941-54440942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567372030	chr13:54440959-54440960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553165724	chr13:54441041-54441042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148296130	chr13:54441051-54441052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186973154	chr13:54441073-54441074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117264982	chr13:54441093-54441094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571951515	chr13:54441143-54441144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112518289	chr13:54441160-54441161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80286034	chr13:54441206-54441207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557932460	chr13:54441211-54441212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540866250	chr13:54441226-54441227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577622628	chr13:54441251-54441252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533911822	chr13:54441303-54441304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9634689	chr13:54441378-54441379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:113)

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
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
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	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	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
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	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
Acute lymphoblastic leukemia	21339820	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54437000-54438000	Enhancers	Fetal Brain Male	brain
2	chr13:54439800-54440800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr13:54440800-54445200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:54444600-54445600	Enhancers	Fetal Heart	heart

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