Variant report

Variant	esv2760496
Chromosome Location	chr18:11560801-11561886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559172962	chr18:11560811-11560812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375264628	chr18:11560855-11560856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142229843	chr18:11560930-11560931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181334701	chr18:11560940-11560941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575191354	chr18:11560946-11560947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539718609	chr18:11560962-11560963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533084971	chr18:11560966-11560967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554854596	chr18:11560986-11560987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577154439	chr18:11561021-11561022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62084067	chr18:11561027-11561028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs117243546	chr18:11561036-11561037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530554933	chr18:11561090-11561091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28547581	chr18:11561125-11561126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575091203	chr18:11561130-11561131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368522675	chr18:11561170-11561171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71364134	chr18:11561171-11561172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571230853	chr18:11561174-11561175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563867796	chr18:11561232-11561233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541843	chr18:11561254-11561255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs546459052	chr18:11561319-11561320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs118189897	chr18:11561339-11561340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185629523	chr18:11561350-11561351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151188893	chr18:11561391-11561392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544822341	chr18:11561426-11561427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188780301	chr18:11561439-11561440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181554358	chr18:11561456-11561457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567392083	chr18:11561464-11561465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557070260	chr18:11561475-11561476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369997127	chr18:11561520-11561521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372642042	chr18:11561545-11561546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535181437	chr18:11561663-11561664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569013282	chr18:11561692-11561693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575358154	chr18:11561716-11561717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542908771	chr18:11561732-11561733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539386422	chr18:11561830-11561831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16976488	chr18:11561842-11561843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375718949	chr18:11561878-11561879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112068995	chr18:11561885-11561886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12962691	chr18:11561886-11561887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:55)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11552400-11572000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11560000-11562200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:11560000-11562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr18:11560800-11561600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:11561200-11561600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr18:11561200-11561800	Enhancers	Brain Angular Gyrus	brain
7	chr18:11561600-11562400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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