Variant report

Variant	nsv828218
Chromosome Location	chr18:39943102-39947378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3C3-7	chr18:39945383-39945641	NONHSAT059074
2	lnc-PIK3C3-7	chr18:39944965-39945296	NONHSAT059074

Extended variants
information (count: 152 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs346445	chr18:39943164-39943165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573142292	chr18:39943172-39943173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1461710	chr18:39943193-39943194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562176140	chr18:39943255-39943256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574567913	chr18:39943364-39943365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541649899	chr18:39943377-39943378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73951506	chr18:39943415-39943416	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564788435	chr18:39943425-39943426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530755483	chr18:39943426-39943427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143236386	chr18:39943447-39943448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191120083	chr18:39943487-39943488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528050578	chr18:39943533-39943534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546395393	chr18:39943540-39943541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1461709	chr18:39943573-39943574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148335906	chr18:39943591-39943592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182487051	chr18:39943596-39943597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549105042	chr18:39943607-39943608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143060078	chr18:39943643-39943644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141447527	chr18:39943728-39943729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145457060	chr18:39943739-39943740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558387091	chr18:39943748-39943749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573170427	chr18:39943802-39943803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574228521	chr18:39943857-39943858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188406791	chr18:39943871-39943872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370118284	chr18:39943887-39943888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373920223	chr18:39943903-39943904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370105418	chr18:39943910-39943911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376864066	chr18:39943925-39943926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555453907	chr18:39943965-39943966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573830372	chr18:39944031-39944032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192682374	chr18:39944054-39944055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183844508	chr18:39944068-39944069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545702892	chr18:39944085-39944086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564373460	chr18:39944099-39944100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528098797	chr18:39944156-39944157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371465955	chr18:39944197-39944198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531793981	chr18:39944198-39944199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546606359	chr18:39944208-39944209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137996188	chr18:39944327-39944328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552964222	chr18:39944334-39944335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187520949	chr18:39944339-39944340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191992769	chr18:39944351-39944352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114509386	chr18:39944377-39944378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146041342	chr18:39944378-39944379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567182191	chr18:39944435-39944436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534210176	chr18:39944484-39944485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184972208	chr18:39944521-39944522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139609585	chr18:39944531-39944532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374415404	chr18:39944537-39944538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202131934	chr18:39944577-39944578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39941200-39946200	Enhancers	Fetal Brain Male	brain
2	chr18:39941400-39945400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:39942800-39943400	Enhancers	Fetal Brain Female	brain
4	chr18:39943400-39944400	Enhancers	HepG2	liver
5	chr18:39943400-39945400	Weak transcription	Fetal Brain Female	brain
6	chr18:39943600-39944200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:39944200-39945400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:39944800-39946200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr18:39945400-39945600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr18:39945400-39945800	Enhancers	Fetal Brain Female	brain
11	chr18:39945400-39946000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:39945400-39946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:39945600-39945800	ZNF genes & repeats	Gastric	stomach
14	chr18:39945600-39946000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr18:39945600-39953600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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