Variant report

Variant	nsv960652
Chromosome Location	chr18:11531542-11543152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 509 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562504922	chr18:11531589-11531590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8094323	chr18:11531630-11531631	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78559412	chr18:11531641-11531642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566406916	chr18:11531650-11531651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534731823	chr18:11531656-11531657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73943913	chr18:11531695-11531696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181566296	chr18:11531707-11531708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535531047	chr18:11531722-11531723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187090442	chr18:11531803-11531804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373670430	chr18:11531836-11531837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145662515	chr18:11531868-11531869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549612806	chr18:11531879-11531880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8095092	chr18:11531911-11531912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8095909	chr18:11531972-11531973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573558823	chr18:11532082-11532083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1940933	chr18:11532115-11532116	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145194639	chr18:11532120-11532121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545180989	chr18:11532138-11532139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535303860	chr18:11532152-11532153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192370720	chr18:11532165-11532166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79377981	chr18:11532233-11532234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532989767	chr18:11532234-11532235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1940932	chr18:11532246-11532247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs143400901	chr18:11532261-11532262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148345788	chr18:11532301-11532302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546975620	chr18:11532322-11532323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572225928	chr18:11532328-11532329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143249525	chr18:11532329-11532330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550840475	chr18:11532330-11532331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370410502	chr18:11532331-11532332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569350518	chr18:11532339-11532340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540069908	chr18:11532340-11532341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145864273	chr18:11532351-11532352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73405220	chr18:11532373-11532374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548706658	chr18:11532386-11532387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138775347	chr18:11532437-11532438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556017692	chr18:11532497-11532498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79595805	chr18:11532502-11532503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537118	chr18:11532532-11532533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78650075	chr18:11532538-11532539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577285249	chr18:11532598-11532599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184042467	chr18:11532607-11532608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61020530	chr18:11532643-11532644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115176126	chr18:11532645-11532646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576077514	chr18:11532649-11532650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185997481	chr18:11532681-11532682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575824479	chr18:11532686-11532687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543466982	chr18:11532687-11532688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80320814	chr18:11532695-11532696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114024237	chr18:11532706-11532707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11519200-11532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11529200-11532600	Enhancers	Fetal Lung	lung
3	chr18:11529600-11533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:11532800-11534400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:11533200-11534400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:11534200-11534400	Enhancers	Pancreas	Pancrea
7	chr18:11534400-11539600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:11539600-11539800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:11539600-11540400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr18:11539800-11540400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr18:11540000-11540400	Enhancers	HUES48 Cell Line	embryonic stem cell

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