Variant report

Variant	nsv2269
Chromosome Location	chr18:40430930-40475718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:40440814..40443148-chr18:40445751..40448526,2	K562	blood:
2	chr18:40470184..40470769-chr18:40528826..40529795,2	MCF-7	breast:
3	chr18:40440814..40443148-chr18:40445751..40448526,2	K562	blood:

Extended variants
information (count: 1622 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375355865	chr18:40430980-40430981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60366603	chr18:40431016-40431017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544719507	chr18:40431027-40431028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140819233	chr18:40431029-40431030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572679712	chr18:40431056-40431057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143065229	chr18:40431067-40431068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561435225	chr18:40431078-40431079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556912596	chr18:40431126-40431127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531962496	chr18:40431131-40431132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543887932	chr18:40431180-40431181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147408533	chr18:40431250-40431251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532526075	chr18:40431262-40431263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542261312	chr18:40431271-40431272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560329924	chr18:40431279-40431280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547519754	chr18:40431323-40431324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs488727	chr18:40431348-40431349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139633507	chr18:40431349-40431350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145568926	chr18:40431384-40431385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145211888	chr18:40431408-40431409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567076071	chr18:40431526-40431527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368358401	chr18:40431543-40431544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531468853	chr18:40431583-40431584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555832167	chr18:40431598-40431599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571303996	chr18:40431599-40431600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372116120	chr18:40431612-40431613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151019005	chr18:40431676-40431677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549577490	chr18:40431701-40431702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139616707	chr18:40431703-40431704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149678823	chr18:40431842-40431843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577390683	chr18:40431868-40431869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17635858	chr18:40431879-40431880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145436849	chr18:40431888-40431889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544068675	chr18:40432014-40432015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182612586	chr18:40432058-40432059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532525005	chr18:40432063-40432064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541400728	chr18:40432088-40432089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529027766	chr18:40432090-40432091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559453831	chr18:40432101-40432102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12965920	chr18:40432135-40432136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186489624	chr18:40432145-40432146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140294675	chr18:40432165-40432166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191289908	chr18:40432169-40432170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531400264	chr18:40432176-40432177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184534963	chr18:40432265-40432266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571307048	chr18:40432301-40432302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538323378	chr18:40432305-40432306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549569764	chr18:40432317-40432318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145312864	chr18:40432328-40432329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569746996	chr18:40432330-40432331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367760824	chr18:40432349-40432350	Weak transcription Enhancers	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:40424800-40434800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:40431800-40432600	Enhancers	Fetal Intestine Large	intestine
3	chr18:40432600-40433600	Weak transcription	Fetal Intestine Large	intestine
4	chr18:40433600-40435000	Enhancers	Fetal Intestine Large	intestine
5	chr18:40434400-40435000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:40434400-40435000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr18:40434400-40435000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:40434400-40435000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr18:40434400-40435000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr18:40434800-40435000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:40435000-40435800	Weak transcription	Fetal Intestine Large	intestine
12	chr18:40435800-40436600	Enhancers	Fetal Intestine Large	intestine
13	chr18:40436600-40443600	Weak transcription	Fetal Intestine Large	intestine
14	chr18:40440800-40441400	Enhancers	Fetal Lung	lung
15	chr18:40443600-40445600	Enhancers	Fetal Intestine Large	intestine
16	chr18:40444400-40445600	Enhancers	Fetal Intestine Small	intestine
17	chr18:40445000-40445400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:40445200-40446400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:40445400-40468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:40452200-40452600	Enhancers	Fetal Stomach	stomach
21	chr18:40452600-40454800	Weak transcription	Fetal Stomach	stomach
22	chr18:40454600-40454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr18:40454800-40455000	Enhancers	Fetal Stomach	stomach
24	chr18:40455400-40455600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr18:40464400-40464800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:40464400-40464800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr18:40467400-40468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr18:40467400-40468200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr18:40467400-40468400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr18:40467400-40469000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr18:40467600-40468000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:40468400-40468800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:40470600-40471200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:40470800-40471200	Enhancers	Colon Smooth Muscle	Colon
35	chr18:40471000-40472600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr18:40472600-40473800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:40473800-40474400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:40474000-40474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:40474000-40474400	Enhancers	Fetal Lung	lung

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