Variant report

Variant	nsv961125
Chromosome Location	chr18:28354817-28370499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201443370	chr18:28354876-28354877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34876204	chr18:28354877-28354878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563799246	chr18:28354879-28354880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375782196	chr18:28354963-28354964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576556045	chr18:28355034-28355035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1943532	chr18:28355048-28355049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561610269	chr18:28355067-28355068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568063853	chr18:28355077-28355078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28460236	chr18:28355090-28355091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528915282	chr18:28355106-28355107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544065387	chr18:28355131-28355132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374886224	chr18:28355152-28355153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs5823770	chr18:28355238-28355239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398079359	chr18:28355245-28355246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs398032356	chr18:28355246-28355247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200738541	chr18:28355247-28355248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188537975	chr18:28355252-28355253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74894648	chr18:28355324-28355325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539632381	chr18:28355354-28355355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193144346	chr18:28355391-28355392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543066071	chr18:28355393-28355394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570909931	chr18:28355430-28355431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373982772	chr18:28355476-28355477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73952509	chr18:28355496-28355497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112607252	chr18:28355500-28355501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145506899	chr18:28355504-28355505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541907785	chr18:28355505-28355506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28510557	chr18:28355510-28355511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73952511	chr18:28355516-28355517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77961866	chr18:28355655-28355656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78797743	chr18:28355670-28355671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532776850	chr18:28355696-28355697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201966397	chr18:28355710-28355711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112337970	chr18:28355808-28355809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138029946	chr18:28355901-28355902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561658406	chr18:28355907-28355908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143195758	chr18:28355989-28355990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547117027	chr18:28356031-28356032	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs185570120	chr18:28356057-28356058	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533266821	chr18:28356064-28356065	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551572676	chr18:28356066-28356067	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs575324473	chr18:28356081-28356082	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs370510949	chr18:28356150-28356151	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs187567375	chr18:28356151-28356152	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs114597928	chr18:28356218-28356219	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569558121	chr18:28356230-28356231	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191347386	chr18:28356233-28356234	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79524111	chr18:28356257-28356258	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572378664	chr18:28356262-28356263	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377526477	chr18:28356279-28356280	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28353400-28355800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:28353800-28360800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:28354600-28356000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:28355000-28355800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr18:28355000-28356600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:28355200-28356200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:28355200-28357400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:28355600-28357200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr18:28355800-28356200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:28355800-28356200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr18:28355800-28357200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr18:28356000-28356400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr18:28356400-28356800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:28356800-28357600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:28357400-28357800	Enhancers	Fetal Heart	heart
16	chr18:28357600-28360400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:28360400-28362800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:28360800-28362200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr18:28362400-28362600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:28367000-28367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr18:28367000-28368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr18:28368200-28368800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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