Variant report

Variant	nsv1055622
Chromosome Location	chr18:40040474-40057755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3C3-5	chr18:40041800-40042148	NONHSAT059065
2	lnc-PIK3C3-5	chr18:40041800-40042148	ENSG00000267586.2

Extended variants
information (count: 248 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16976160	chr18:40040474-40040475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371023122	chr18:40040598-40040599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73951589	chr18:40040615-40040616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542986031	chr18:40040632-40040633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561643419	chr18:40040668-40040669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375319052	chr18:40040686-40040687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531856674	chr18:40040701-40040702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549767974	chr18:40040717-40040718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564926331	chr18:40040719-40040720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138023285	chr18:40040722-40040723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184349710	chr18:40040725-40040726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541872448	chr18:40040726-40040727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77163079	chr18:40040746-40040747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548875578	chr18:40040750-40040751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113718441	chr18:40041834-40041835	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs78098736	chr18:40041839-40041840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs533216033	chr18:40041841-40041842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs139008958	chr18:40041855-40041856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs186717422	chr18:40041856-40041857	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs529227967	chr18:40041864-40041865	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs57951898	chr18:40041906-40041907	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191160083	chr18:40041918-40041919	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534815426	chr18:40041944-40041945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs182496690	chr18:40041982-40041983	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs72642409	chr18:40042002-40042003	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs346197	chr18:40042007-40042008	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531519103	chr18:40042077-40042078	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs539308187	chr18:40042084-40042085	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs549970084	chr18:40042095-40042096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs184551879	chr18:40042104-40042105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs74577237	chr18:40042123-40042124	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs77221329	chr18:40042138-40042139	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs145085534	chr18:40043238-40043239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114748576	chr18:40043270-40043271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116615721	chr18:40043289-40043290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192783725	chr18:40043295-40043296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199945770	chr18:40043303-40043304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553091997	chr18:40043305-40043306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574432741	chr18:40043316-40043317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541716362	chr18:40043365-40043366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139016585	chr18:40043375-40043376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530410005	chr18:40043376-40043377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545359652	chr18:40043389-40043390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182562391	chr18:40043390-40043391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528144924	chr18:40043392-40043393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575668969	chr18:40048238-40048239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs441362	chr18:40048254-40048255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150199389	chr18:40048255-40048256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577106493	chr18:40048310-40048311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs346229	chr18:40048313-40048314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40037800-40040800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:40040200-40040600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:40043200-40043400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:40048200-40049200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:40052000-40052400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:40052000-40052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:40052200-40052600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:40054400-40054800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:40054400-40055400	Enhancers	Fetal Kidney	kidney
10	chr18:40055200-40055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:40055200-40055600	Enhancers	Brain Hippocampus Middle	brain
12	chr18:40055400-40056000	Enhancers	Fetal Heart	heart
13	chr18:40055400-40056800	Weak transcription	Fetal Kidney	kidney
14	chr18:40056800-40057000	Enhancers	Fetal Kidney	kidney
15	chr18:40057000-40057400	Weak transcription	Fetal Kidney	kidney
16	chr18:40057400-40057600	Enhancers	Fetal Kidney	kidney
17	chr18:40057600-40060800	Weak transcription	Fetal Kidney	kidney

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