Variant report

Variant	esv15616
Chromosome Location	chr18:11509973-11510808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371307066	chr18:11509975-11509976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140268362	chr18:11509982-11509983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145365487	chr18:11509998-11509999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190402636	chr18:11510058-11510059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180777384	chr18:11510131-11510132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184411411	chr18:11510225-11510226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527240576	chr18:11510234-11510235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548961181	chr18:11510244-11510245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35886542	chr18:11510289-11510290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567291263	chr18:11510305-11510306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12455339	chr18:11510328-11510329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs145179520	chr18:11510335-11510336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112882526	chr18:11510337-11510338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571074207	chr18:11510339-11510340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538555558	chr18:11510401-11510402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137869963	chr18:11510416-11510417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572004782	chr18:11510478-11510479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533976738	chr18:11510587-11510588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188291364	chr18:11510642-11510643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572837140	chr18:11510648-11510649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34498049	chr18:11510667-11510668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140829870	chr18:11510707-11510708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539949806	chr18:11510734-11510735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551193088	chr18:11510769-11510770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11502600-11513200	Weak transcription	NHDF-Ad	bronchial
2	chr18:11507000-11511800	Weak transcription	Thymus	Thymus
3	chr18:11507400-11512000	Weak transcription	Hela-S3	cervix
4	chr18:11509000-11511800	Enhancers	Dnd41	blood
5	chr18:11509800-11511800	Enhancers	Fetal Thymus	thymus

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