Variant report

Variant	nsv517835
Chromosome Location	chr18:45672940-45678479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45674100..45677757-chr18:45678763..45682231,4	K562	blood:
2	chr18:45671241..45673397-chr18:45675712..45678657,2	MCF-7	breast:
3	chr18:45671241..45673397-chr18:45675712..45678657,2	MCF-7	breast:
4	chr18:45677575..45679860-chr18:45748750..45750379,2	MCF-7	breast:
5	chr18:45666537..45669194-chr18:45677559..45680379,3	MCF-7	breast:

Extended variants
information (count: 230 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4429360	chr18:45672940-45672941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546306785	chr18:45672978-45672979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559828149	chr18:45672981-45672982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182761445	chr18:45672985-45672986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140537178	chr18:45673000-45673001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35471905	chr18:45673025-45673026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562204276	chr18:45673043-45673044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531150448	chr18:45673096-45673097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7229213	chr18:45673219-45673220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72922118	chr18:45673233-45673234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114072337	chr18:45673270-45673271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551851736	chr18:45673317-45673318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150433415	chr18:45673369-45673370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531723344	chr18:45673380-45673381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4258692	chr18:45673443-45673444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566404357	chr18:45673473-45673474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34699687	chr18:45673518-45673519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187676935	chr18:45673558-45673559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556908869	chr18:45673599-45673600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368847676	chr18:45673605-45673606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191498124	chr18:45673639-45673640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546368321	chr18:45673708-45673709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553460748	chr18:45673709-45673710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573285943	chr18:45673728-45673729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541824122	chr18:45673729-45673730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74583462	chr18:45673738-45673739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531139278	chr18:45673755-45673756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11663233	chr18:45673801-45673802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564384866	chr18:45673838-45673839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187172567	chr18:45673863-45673864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551864340	chr18:45673879-45673880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55985488	chr18:45673991-45673992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79940562	chr18:45673992-45673993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79427720	chr18:45674005-45674006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142812381	chr18:45674029-45674030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370492189	chr18:45674065-45674066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192083914	chr18:45674075-45674076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568031460	chr18:45674106-45674107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562207279	chr18:45674132-45674133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536988023	chr18:45674255-45674256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557221294	chr18:45674256-45674257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11660595	chr18:45674265-45674266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547764751	chr18:45674304-45674305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539606232	chr18:45674409-45674410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539770745	chr18:45674412-45674413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550431159	chr18:45674417-45674418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11660636	chr18:45674421-45674422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373323578	chr18:45674460-45674461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7505482	chr18:45674492-45674493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542288109	chr18:45674510-45674511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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	21297112	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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45663800-45679800	Weak transcription	Aorta	Aorta
2	chr18:45669400-45685200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:45669600-45678200	Weak transcription	Spleen	Spleen
4	chr18:45669800-45675000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr18:45670000-45674800	Weak transcription	Stomach Mucosa	stomach
6	chr18:45670200-45675400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:45670400-45674600	Weak transcription	Hela-S3	cervix
8	chr18:45670400-45678000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:45671600-45675800	Weak transcription	Placenta	Placenta
10	chr18:45672000-45679200	Weak transcription	Esophagus	oesophagus
11	chr18:45674600-45676000	Enhancers	Hela-S3	cervix
12	chr18:45674800-45675400	Enhancers	Stomach Mucosa	stomach
13	chr18:45675000-45675600	Enhancers	Duodenum Mucosa	Duodenum
14	chr18:45675400-45675800	Enhancers	Gastric	stomach
15	chr18:45675400-45676000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:45675400-45676000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr18:45675400-45676000	Enhancers	Ovary	ovary
18	chr18:45675400-45677400	Weak transcription	Stomach Mucosa	stomach
19	chr18:45675600-45677600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr18:45675800-45676000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:45675800-45676000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:45675800-45676000	Enhancers	Fetal Muscle Trunk	muscle
23	chr18:45675800-45676000	Enhancers	Lung	lung
24	chr18:45675800-45676000	Enhancers	Pancreas	Pancrea
25	chr18:45675800-45677800	Weak transcription	Gastric	stomach
26	chr18:45675800-45682800	Enhancers	Placenta	Placenta
27	chr18:45676000-45677200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:45676000-45677200	Weak transcription	Hela-S3	cervix
29	chr18:45676000-45677800	Weak transcription	Ovary	ovary
30	chr18:45676000-45679200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr18:45676000-45679800	Weak transcription	Pancreas	Pancrea
32	chr18:45676400-45677800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr18:45677200-45678200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:45677200-45681200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:45677200-45682200	Enhancers	Hela-S3	cervix
36	chr18:45677400-45681800	Enhancers	Stomach Mucosa	stomach
37	chr18:45677600-45678600	Enhancers	Duodenum Mucosa	Duodenum
38	chr18:45677600-45678600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr18:45677600-45678600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr18:45677600-45680000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr18:45677800-45678400	Enhancers	Right Atrium	heart
42	chr18:45677800-45678400	Enhancers	Small Intestine	intestine
43	chr18:45677800-45678600	Enhancers	Fetal Muscle Trunk	muscle
44	chr18:45677800-45678600	Enhancers	Fetal Muscle Leg	muscle
45	chr18:45677800-45678600	Enhancers	HSMMtube	muscle
46	chr18:45677800-45678800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr18:45677800-45680800	Enhancers	Fetal Intestine Large	intestine
48	chr18:45677800-45680800	Enhancers	Gastric	stomach
49	chr18:45677800-45682200	Enhancers	Ovary	ovary
50	chr18:45678000-45678600	Enhancers	Fetal Intestine Small	intestine

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