Variant report

Variant	nsv519488
Chromosome Location	chr18:11562631-11565370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535529	chr18:11562631-11562632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550801665	chr18:11562678-11562679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566721240	chr18:11562683-11562684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534073471	chr18:11562694-11562695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553430099	chr18:11562757-11562758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568447948	chr18:11562799-11562800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535966316	chr18:11562846-11562847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184033293	chr18:11562853-11562854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62084068	chr18:11562857-11562858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565407165	chr18:11562885-11562886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554532	chr18:11562954-11562955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367686166	chr18:11562959-11562960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75481793	chr18:11562980-11562981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548447734	chr18:11563023-11563024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540503745	chr18:11563033-11563034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190948679	chr18:11563057-11563058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573267721	chr18:11563067-11563068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543925640	chr18:11563075-11563076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559112922	chr18:11563090-11563091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117215922	chr18:11563123-11563124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566805303	chr18:11563146-11563147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117818197	chr18:11563167-11563168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370562102	chr18:11563168-11563169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369340277	chr18:11563193-11563194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182531168	chr18:11563222-11563223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534258761	chr18:11563269-11563270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560088376	chr18:11563278-11563279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527617036	chr18:11563299-11563300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144939924	chr18:11563300-11563301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568485465	chr18:11563340-11563341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535800930	chr18:11563362-11563363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187186113	chr18:11563373-11563374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377209594	chr18:11563397-11563398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544952234	chr18:11563398-11563399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569373765	chr18:11563430-11563431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192054948	chr18:11563445-11563446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528657665	chr18:11563463-11563464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77073813	chr18:11563468-11563469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183095276	chr18:11563470-11563471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573086776	chr18:11563491-11563492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146789412	chr18:11563527-11563528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187638807	chr18:11563534-11563535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193233631	chr18:11563556-11563557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530399013	chr18:11563576-11563577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148997634	chr18:11563681-11563682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544156592	chr18:11563700-11563701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143828944	chr18:11563775-11563776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577716747	chr18:11563836-11563837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185733023	chr18:11563935-11563936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560308333	chr18:11563975-11563976	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:5 , 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	chr18:11560000-11562800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:11562200-11565200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:11562800-11565800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:11565200-11566400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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