Variant report

Variant	nsv962487
Chromosome Location	chr18:11583351-11587164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 167 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139844045	chr18:11583365-11583366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116596047	chr18:11583367-11583368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72528928	chr18:11583409-11583410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34289525	chr18:11583410-11583411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75698129	chr18:11583411-11583412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143284931	chr18:11583421-11583422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112096770	chr18:11583431-11583432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4797559	chr18:11583447-11583448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538573146	chr18:11583452-11583453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554070193	chr18:11583462-11583463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572225796	chr18:11583474-11583475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115248364	chr18:11583488-11583489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4797560	chr18:11583495-11583496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528628898	chr18:11583517-11583518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4797561	chr18:11583532-11583533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562960525	chr18:11583645-11583646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146656496	chr18:11583647-11583648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368739153	chr18:11583669-11583670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545253875	chr18:11583707-11583708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560865506	chr18:11583775-11583776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112221065	chr18:11583828-11583829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148833454	chr18:11583846-11583847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567229113	chr18:11583873-11583874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371689401	chr18:11583891-11583892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142683155	chr18:11583915-11583916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549869554	chr18:11583922-11583923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147507041	chr18:11583934-11583935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571239430	chr18:11583944-11583945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151022461	chr18:11583983-11583984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140884618	chr18:11584020-11584021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566008971	chr18:11584038-11584039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182070925	chr18:11584049-11584050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555346171	chr18:11584093-11584094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145914197	chr18:11584139-11584140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537963250	chr18:11584172-11584173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556650079	chr18:11584210-11584211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534701899	chr18:11584252-11584253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375956164	chr18:11584265-11584266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578015887	chr18:11584267-11584268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548288952	chr18:11584299-11584300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560510645	chr18:11584302-11584303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568268188	chr18:11584308-11584309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572785048	chr18:11584309-11584310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372512815	chr18:11584383-11584384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80333931	chr18:11584388-11584389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140114140	chr18:11584405-11584406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543296018	chr18:11584429-11584430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369988131	chr18:11584442-11584443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112622058	chr18:11584447-11584448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577692382	chr18:11584461-11584462	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11578000-11586800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr18:11578400-11586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:11578800-11587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr18:11579000-11587000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr18:11581000-11586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr18:11581600-11586000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr18:11581600-11586200	Weak transcription	Thymus	Thymus
8	chr18:11581800-11585600	Weak transcription	Fetal Thymus	thymus
9	chr18:11582200-11585400	Weak transcription	Dnd41	blood
10	chr18:11585400-11589000	Enhancers	Dnd41	blood
11	chr18:11585600-11585800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr18:11585600-11589000	Enhancers	Fetal Thymus	thymus
13	chr18:11585800-11586000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr18:11585800-11586000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:11586000-11587000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr18:11586000-11587000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:11586000-11589000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:11586200-11586600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:11586200-11588600	Enhancers	Primary T cells from cord blood	blood
20	chr18:11586200-11588800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr18:11586200-11588800	Enhancers	Thymus	Thymus
22	chr18:11586400-11586600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:11586400-11586600	Enhancers	Fetal Muscle Leg	muscle
24	chr18:11586400-11588800	Enhancers	Fetal Lung	lung
25	chr18:11586600-11586800	Enhancers	Brain Germinal Matrix	brain
26	chr18:11586600-11587200	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:11586600-11587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:11586600-11588400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:11586800-11587600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:11586800-11588600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr18:11586800-11588600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:11586800-11588600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr18:11587000-11587400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr18:11587000-11588000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr18:11587000-11588200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr18:11587000-11588200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr18:11587000-11588400	Enhancers	Primary T helper cells PMA-I stimulated	--

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