Variant report

Variant	nsv9619
Chromosome Location	chr18:14842691-14851922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 362 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374719398	chr18:14842716-14842717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192592252	chr18:14842736-14842737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2792541	chr18:14842740-14842741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185545794	chr18:14842746-14842747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142166505	chr18:14842747-14842748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189203542	chr18:14842756-14842757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571459928	chr18:14842759-14842760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549739473	chr18:14842768-14842769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569569104	chr18:14842784-14842785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538109234	chr18:14842805-14842806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550562583	chr18:14842810-14842811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200912982	chr18:14842813-14842814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71369848	chr18:14842817-14842818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570320637	chr18:14842818-14842819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34926676	chr18:14842846-14842847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539543819	chr18:14842873-14842874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368588449	chr18:14842878-14842879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566361770	chr18:14842937-14842938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532216063	chr18:14842952-14842953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371126044	chr18:14842964-14842965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535260034	chr18:14842975-14842976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555286224	chr18:14842990-14842991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180690700	chr18:14843023-14843024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575181090	chr18:14843079-14843080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544136477	chr18:14843088-14843089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569269049	chr18:14843227-14843228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536633377	chr18:14843229-14843230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577929598	chr18:14843238-14843239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540749105	chr18:14843258-14843259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555032534	chr18:14843259-14843260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58271532	chr18:14843316-14843317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2775801	chr18:14843340-14843341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs148244042	chr18:14843419-14843420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532049651	chr18:14843503-14843504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551762755	chr18:14843534-14843535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370398357	chr18:14843553-14843554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367624015	chr18:14843582-14843583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56044501	chr18:14843585-14843586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371684150	chr18:14843588-14843589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201210700	chr18:14843592-14843593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373943805	chr18:14843620-14843621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570458134	chr18:14843645-14843646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138227545	chr18:14843687-14843688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546327133	chr18:14843708-14843709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375359911	chr18:14843724-14843725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566224810	chr18:14843743-14843744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113965605	chr18:14843747-14843748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535128400	chr18:14843749-14843750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555149424	chr18:14843750-14843751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs202140004	chr18:14843759-14843760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
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	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14841800-14852000	Weak transcription	Osteobl	bone
2	chr18:14842600-14842800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:14842800-14843200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14844600-14844800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14848200-14851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:14850600-14851200	Enhancers	Dnd41	blood
7	chr18:14850800-14852600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:14851000-14851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:14851200-14851600	Flanking Active TSS	Dnd41	blood
10	chr18:14851200-14851800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:14851600-14852600	Active TSS	Duodenum Mucosa	Duodenum
12	chr18:14851600-14852600	Active TSS	Dnd41	blood
13	chr18:14851800-14852400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr18:14851800-14852600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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