Variant report

Variant	nsv978605
Chromosome Location	chr18:12126870-12129950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9303760	chr18:12126890-12126891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561562259	chr18:12126896-12126897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543611891	chr18:12126900-12126901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186146926	chr18:12126925-12126926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544145779	chr18:12126926-12126927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562331097	chr18:12126987-12126988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113114936	chr18:12127000-12127001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532919234	chr18:12127001-12127002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551310872	chr18:12127060-12127061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555600293	chr18:12127065-12127066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564572626	chr18:12127083-12127084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528615483	chr18:12127103-12127104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73950326	chr18:12127139-12127140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs76700341	chr18:12127182-12127183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568515503	chr18:12127200-12127201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536147801	chr18:12127207-12127208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4797621	chr18:12127216-12127217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569575218	chr18:12127256-12127257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189243079	chr18:12127257-12127258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558083522	chr18:12127261-12127262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4239305	chr18:12127311-12127312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs533677558	chr18:12127372-12127373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369634386	chr18:12127410-12127411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145774516	chr18:12127507-12127508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113059725	chr18:12127518-12127519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543811821	chr18:12127519-12127520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551131581	chr18:12127548-12127549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182263380	chr18:12127571-12127572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151178493	chr18:12127608-12127609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545174684	chr18:12127713-12127714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28721514	chr18:12127739-12127740	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140160741	chr18:12127789-12127790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540412851	chr18:12127838-12127839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150303184	chr18:12127880-12127881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78364133	chr18:12127915-12127916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529258424	chr18:12127947-12127948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551017161	chr18:12127971-12127972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186053690	chr18:12128091-12128092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533489606	chr18:12128139-12128140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551928389	chr18:12128173-12128174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146649166	chr18:12128292-12128293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190975697	chr18:12128317-12128318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34808119	chr18:12128346-12128347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28479414	chr18:12128389-12128390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533874766	chr18:12128401-12128402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555000724	chr18:12128465-12128466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183085419	chr18:12128489-12128490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537417933	chr18:12128536-12128537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555776946	chr18:12128550-12128551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577496224	chr18:12128575-12128576	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
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	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12114200-12130600	Weak transcription	Pancreas	Pancrea

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