Variant report

Variant	nsv130642
Chromosome Location	chr18:28696273-28701122
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	chr18:28692982..28695806-chr18:28698647..28700392,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138774542	chr18:28697888-28697889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193131285	chr18:28697909-28697910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149407966	chr18:28697910-28697911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547331742	chr18:28697914-28697915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16961253	chr18:28697915-28697916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184099398	chr18:28697937-28697938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530113171	chr18:28697945-28697946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557580716	chr18:28697968-28697969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16961254	chr18:28697994-28697995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539429584	chr18:28698210-28698211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562735156	chr18:28698262-28698263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574522719	chr18:28698275-28698276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146350291	chr18:28698277-28698278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118041030	chr18:28698309-28698310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139759819	chr18:28698348-28698349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528079889	chr18:28698397-28698398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58074742	chr18:28698398-28698399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371444777	chr18:28698404-28698405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546968638	chr18:28698433-28698434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549982225	chr18:28698436-28698437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576118911	chr18:28698456-28698457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565274834	chr18:28698475-28698476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560248786	chr18:28698493-28698494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9957126	chr18:28698499-28698500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569463324	chr18:28698539-28698540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536420184	chr18:28698543-28698544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548284484	chr18:28698567-28698568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566192070	chr18:28698569-28698570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543617554	chr18:28698577-28698578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192715595	chr18:28698586-28698587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558168964	chr18:28698598-28698599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114746645	chr18:28698608-28698609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183764018	chr18:28698657-28698658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555493686	chr18:28698661-28698662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9635915	chr18:28698666-28698667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556153771	chr18:28698713-28698714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375688086	chr18:28698737-28698738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9957402	chr18:28698748-28698749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541618275	chr18:28698750-28698751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561370592	chr18:28698754-28698755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573419786	chr18:28698788-28698789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188830572	chr18:28698831-28698832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565314213	chr18:28698835-28698836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9957506	chr18:28698844-28698845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574272908	chr18:28698860-28698861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551278627	chr18:28698882-28698883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563009844	chr18:28698895-28698896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35848131	chr18:28698907-28698908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57782806	chr18:28698922-28698923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530328175	chr18:28698927-28698928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28697800-28698000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr18:28698200-28699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:28698600-28699600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr18:28698600-28699800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:28698800-28699600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:28698800-28700000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:28699000-28699400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:28699000-28699600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:28699000-28699600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:28699000-28699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:28699200-28699600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:28700400-28703000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:28700600-28701200	Enhancers	Stomach Mucosa	stomach
14	chr18:28700800-28701000	Enhancers	GM12878-XiMat	blood

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