Variant report

Variant	esv3346453
Chromosome Location	chr18:7541588-7549619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs552445672	chr18:7543800-7543801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373006287	chr18:7543811-7543812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568949063	chr18:7543825-7543826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186521336	chr18:7543872-7543873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190569859	chr18:7543878-7543879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139050947	chr18:7543882-7543883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549304467	chr18:7543903-7543904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533565206	chr18:7543933-7543934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149448199	chr18:7543960-7543961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114721738	chr18:7543972-7543973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143956916	chr18:7544061-7544062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555624825	chr18:7544085-7544086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558762367	chr18:7544120-7544121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567361472	chr18:7544139-7544140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148650509	chr18:7544178-7544179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561228681	chr18:7544210-7544211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35430200	chr18:7544214-7544215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536233643	chr18:7544246-7544247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374833839	chr18:7544271-7544272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569471755	chr18:7544272-7544273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182905463	chr18:7544275-7544276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560464145	chr18:7544276-7544277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532474462	chr18:7544298-7544299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2136367	chr18:7544341-7544342	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562646774	chr18:7544343-7544344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186176939	chr18:7544350-7544351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531411650	chr18:7544377-7544378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557123	chr18:7544382-7544383	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143260338	chr18:7544402-7544403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538135833	chr18:7544452-7544453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539091484	chr18:7544474-7544475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369650505	chr18:7544478-7544479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534631	chr18:7544479-7544480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558796512	chr18:7544501-7544502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538912888	chr18:7544516-7544517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558844335	chr18:7544530-7544531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575746052	chr18:7544555-7544556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78120766	chr18:7544566-7544567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534263	chr18:7544600-7544601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183430019	chr18:7544608-7544609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554894900	chr18:7544614-7544615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370735035	chr18:7544615-7544616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139283554	chr18:7544625-7544626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112664927	chr18:7544627-7544628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536309	chr18:7544633-7544634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144162793	chr18:7544634-7544635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562782838	chr18:7544647-7544648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531527318	chr18:7544656-7544657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146508433	chr18:7544670-7544671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61287411	chr18:7544682-7544683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7543800-7545600	Enhancers	Fetal Thymus	thymus
2	chr18:7544200-7544600	Enhancers	Fetal Brain Female	brain
3	chr18:7544400-7544800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr18:7545600-7546600	Weak transcription	Fetal Thymus	thymus
5	chr18:7545600-7548600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:7545800-7546000	Enhancers	Adipose Nuclei	Adipose
7	chr18:7545800-7549400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:7546000-7547000	Weak transcription	Adipose Nuclei	Adipose
9	chr18:7546600-7549000	Enhancers	Fetal Thymus	thymus
10	chr18:7547000-7547400	Enhancers	Adipose Nuclei	Adipose
11	chr18:7547400-7548400	Weak transcription	Adipose Nuclei	Adipose
12	chr18:7548200-7548600	Active TSS	Brain Anterior Caudate	brain
13	chr18:7548400-7548800	Enhancers	Adipose Nuclei	Adipose

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