Variant report

Variant	esv3409168
Chromosome Location	chr18:14469952-14473150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145367880	chr18:14469967-14469968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144631129	chr18:14469968-14469969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574776444	chr18:14469971-14469972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112348408	chr18:14469973-14469974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527592411	chr18:14469979-14469980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547354525	chr18:14470058-14470059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561358854	chr18:14470090-14470091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530117652	chr18:14470100-14470101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149678372	chr18:14470101-14470102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570143692	chr18:14470113-14470114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539186625	chr18:14470114-14470115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552811504	chr18:14470118-14470119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566340366	chr18:14470120-14470121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535359428	chr18:14470121-14470122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553465774	chr18:14470126-14470127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560071044	chr18:14470156-14470157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117830320	chr18:14470174-14470175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556271754	chr18:14470193-14470194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575735223	chr18:14470197-14470198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544764905	chr18:14470203-14470204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564755398	chr18:14470205-14470206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146198480	chr18:14470214-14470215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541346892	chr18:14470225-14470226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561114042	chr18:14470226-14470227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62080653	chr18:14470228-14470229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549907604	chr18:14470243-14470244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563729631	chr18:14470249-14470250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532666048	chr18:14470280-14470281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552774780	chr18:14470314-14470315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566303611	chr18:14470319-14470320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6505910	chr18:14470351-14470352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531696327	chr18:14470472-14470473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180714229	chr18:14470518-14470519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7243594	chr18:14470524-14470525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146613401	chr18:14470579-14470580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71217350	chr18:14470591-14470592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71217351	chr18:14470604-14470605	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs555896537	chr18:14470615-14470616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs71217352	chr18:14470634-14470635	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149199216	chr18:14470640-14470641	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185548634	chr18:14470661-14470662	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558311690	chr18:14470671-14470672	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs142450427	chr18:14470672-14470673	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs71217353	chr18:14470673-14470674	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540960517	chr18:14470687-14470688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs71217354	chr18:14470704-14470705	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554799577	chr18:14470764-14470765	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71217355	chr18:14470767-14470768	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574651051	chr18:14470778-14470779	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs71217356	chr18:14470793-14470794	Enhancers Flanking Active TSS	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14458600-14470000	Weak transcription	Osteobl	bone
2	chr18:14466600-14471600	Enhancers	HMEC	breast
3	chr18:14469200-14470000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:14469600-14471400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14469800-14471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:14470000-14470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:14470000-14470600	Enhancers	Osteobl	bone
8	chr18:14470000-14470800	Enhancers	Placenta	Placenta
9	chr18:14470000-14471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:14470000-14471200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr18:14470000-14472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:14470000-14472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:14470600-14470800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:14470600-14471200	Flanking Active TSS	Osteobl	bone
15	chr18:14471200-14472200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:14471200-14473200	Enhancers	Osteobl	bone
17	chr18:14471400-14471800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:14471800-14473400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:14472200-14472400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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