Variant report

Variant	esv1823398
Chromosome Location	chr18:11508904-11510794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7229302	chr18:11508904-11508905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562315609	chr18:11508906-11508907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529419378	chr18:11508913-11508914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7228446	chr18:11508922-11508923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569183008	chr18:11508982-11508983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531389703	chr18:11509001-11509002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72877311	chr18:11509057-11509058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9957518	chr18:11509119-11509120	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190865227	chr18:11509134-11509135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182579529	chr18:11509196-11509197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566905736	chr18:11509238-11509239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551422389	chr18:11509259-11509260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375924943	chr18:11509272-11509273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143215257	chr18:11509274-11509275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200551629	chr18:11509275-11509276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201430780	chr18:11509276-11509277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202074822	chr18:11509278-11509279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200389642	chr18:11509279-11509280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201479297	chr18:11509282-11509283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534024728	chr18:11509299-11509300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566450439	chr18:11509301-11509302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188140138	chr18:11509307-11509308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191827138	chr18:11509329-11509330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8088252	chr18:11509406-11509407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148976340	chr18:11509452-11509453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11662931	chr18:11509516-11509517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184284462	chr18:11509559-11509560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537698043	chr18:11509573-11509574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556316719	chr18:11509577-11509578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570908856	chr18:11509592-11509593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577550606	chr18:11509678-11509679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8088995	chr18:11509696-11509697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187516065	chr18:11509700-11509701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112985692	chr18:11509726-11509727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142943210	chr18:11509748-11509749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75184589	chr18:11509750-11509751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192322981	chr18:11509771-11509772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540330957	chr18:11509791-11509792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185533735	chr18:11509924-11509925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371307066	chr18:11509975-11509976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140268362	chr18:11509982-11509983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145365487	chr18:11509998-11509999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190402636	chr18:11510058-11510059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180777384	chr18:11510131-11510132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184411411	chr18:11510225-11510226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527240576	chr18:11510234-11510235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548961181	chr18:11510244-11510245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35886542	chr18:11510289-11510290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567291263	chr18:11510305-11510306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12455339	chr18:11510328-11510329	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11502600-11513200	Weak transcription	NHDF-Ad	bronchial
2	chr18:11507000-11509800	Weak transcription	Fetal Thymus	thymus
3	chr18:11507000-11511800	Weak transcription	Thymus	Thymus
4	chr18:11507200-11509000	Weak transcription	Dnd41	blood
5	chr18:11507400-11512000	Weak transcription	Hela-S3	cervix
6	chr18:11509000-11511800	Enhancers	Dnd41	blood
7	chr18:11509800-11511800	Enhancers	Fetal Thymus	thymus

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