Variant report

Variant	nsv520209
Chromosome Location	chr18:11557161-11564905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 304 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs524956	chr18:11557161-11557162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529084103	chr18:11557162-11557163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560144437	chr18:11557211-11557212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555388026	chr18:11557286-11557287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74718958	chr18:11557288-11557289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116652623	chr18:11557322-11557323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142118530	chr18:11557324-11557325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368370074	chr18:11557339-11557340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200146883	chr18:11557342-11557343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200148913	chr18:11557343-11557344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12456246	chr18:11557344-11557345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12969663	chr18:11557366-11557367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563573899	chr18:11557372-11557373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530746403	chr18:11557373-11557374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550083630	chr18:11557382-11557383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569288583	chr18:11557389-11557390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539793899	chr18:11557451-11557452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549347900	chr18:11557467-11557468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566916786	chr18:11557495-11557496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374768874	chr18:11557502-11557503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12456287	chr18:11557519-11557520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555590350	chr18:11557534-11557535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71360877	chr18:11557536-11557537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573877296	chr18:11557540-11557541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1817381	chr18:11557587-11557588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556410406	chr18:11557595-11557596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547124173	chr18:11557626-11557627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62084066	chr18:11557668-11557669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187837220	chr18:11557679-11557680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559880763	chr18:11557739-11557740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572152044	chr18:11557746-11557747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542722674	chr18:11557776-11557777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192879094	chr18:11557792-11557793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150709755	chr18:11557800-11557801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557300589	chr18:11557804-11557805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550122257	chr18:11557842-11557843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139479412	chr18:11557877-11557878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145283240	chr18:11557896-11557897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551793216	chr18:11557928-11557929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115666803	chr18:11557929-11557930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575880030	chr18:11557954-11557955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534332428	chr18:11557992-11557993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147649743	chr18:11558002-11558003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567537031	chr18:11558021-11558022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142157878	chr18:11558105-11558106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556446445	chr18:11558109-11558110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536584889	chr18:11558129-11558130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569692351	chr18:11558149-11558150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149731031	chr18:11558151-11558152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145571127	chr18:11558152-11558153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:14 , 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	chr18:11560000-11560800	Enhancers	Primary B cells from peripheral blood	blood
3	chr18:11560000-11560800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:11560000-11562200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:11560000-11562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:11560200-11560400	Flanking Active TSS	GM12878-XiMat	blood
7	chr18:11560200-11560600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:11560400-11560600	Enhancers	GM12878-XiMat	blood
9	chr18:11560800-11561600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr18:11561200-11561600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:11561200-11561800	Enhancers	Brain Angular Gyrus	brain
12	chr18:11561600-11562400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr18:11562200-11565200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:11562800-11565800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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