Variant report

Variant	nsv470418
Chromosome Location	chr18:40466757-40493501
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	chr18:40470184..40470769-chr18:40528826..40529795,2	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:303 , 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	rs146480809	chr18:40466757-40466758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182155427	chr18:40466810-40466811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553296906	chr18:40466875-40466876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574923172	chr18:40466884-40466885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368407259	chr18:40466942-40466943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187662505	chr18:40466970-40466971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193217847	chr18:40466978-40466979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557273819	chr18:40466989-40466990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575661113	chr18:40467004-40467005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546356192	chr18:40467034-40467035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149931519	chr18:40467056-40467057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571082778	chr18:40467058-40467059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73471679	chr18:40467065-40467066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541324359	chr18:40467091-40467092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559647976	chr18:40467093-40467094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529949351	chr18:40467106-40467107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561201776	chr18:40467261-40467262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147613666	chr18:40467320-40467321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183918154	chr18:40467335-40467336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75610290	chr18:40467377-40467378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551879948	chr18:40467391-40467392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140650250	chr18:40467470-40467471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188467134	chr18:40467491-40467492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs8084102	chr18:40467505-40467506	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs192141159	chr18:40467509-40467510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59916361	chr18:40467521-40467522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184686338	chr18:40467522-40467523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552642342	chr18:40467523-40467524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575779900	chr18:40467537-40467538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546319075	chr18:40467565-40467566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8085172	chr18:40467577-40467578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573385068	chr18:40467593-40467594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531970523	chr18:40467606-40467607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561961425	chr18:40467617-40467618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114064802	chr18:40467620-40467621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188615319	chr18:40467628-40467629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369781054	chr18:40467632-40467633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563474216	chr18:40467641-40467642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530663084	chr18:40467740-40467741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145220692	chr18:40467763-40467764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200912271	chr18:40467768-40467769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201446766	chr18:40467769-40467770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144497944	chr18:40467808-40467809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563796842	chr18:40467813-40467814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528173096	chr18:40467827-40467828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559036140	chr18:40467879-40467880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147778211	chr18:40467911-40467912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8088192	chr18:40468053-40468054	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551038845	chr18:40468088-40468089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148828712	chr18:40468113-40468114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40445400-40468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:40467400-40468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr18:40467400-40468200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr18:40467400-40468400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr18:40467400-40469000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:40467600-40468000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:40468400-40468800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr18:40470600-40471200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:40470800-40471200	Enhancers	Colon Smooth Muscle	Colon
10	chr18:40471000-40472600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:40472600-40473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr18:40473800-40474400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:40474000-40474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:40474000-40474400	Enhancers	Fetal Lung	lung
15	chr18:40476800-40477400	Enhancers	Stomach Mucosa	stomach
16	chr18:40477000-40477400	Enhancers	Fetal Intestine Large	intestine
17	chr18:40487200-40487600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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