Variant report

Variant	nsv962495
Chromosome Location	chr18:14455403-14457501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14455520-14455670	MCF-7	breast:	n/a	n/a
2	POLR2A	chr18:14455497-14455573	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
LONRF2P1	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530956572	chr18:14455446-14455447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142646136	chr18:14455466-14455467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6505906	chr18:14455506-14455507	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564616296	chr18:14455574-14455575	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs6505907	chr18:14455608-14455609	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs143702340	chr18:14455626-14455627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140295452	chr18:14455665-14455666	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150350825	chr18:14455679-14455680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182154533	chr18:14455680-14455681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567699207	chr18:14455705-14455706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11080760	chr18:14455713-14455714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556637422	chr18:14455730-14455731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369808018	chr18:14455772-14455773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576485786	chr18:14455792-14455793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539531906	chr18:14455813-14455814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552860144	chr18:14455855-14455856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71317537	chr18:14455868-14455869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573016169	chr18:14455877-14455878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541736237	chr18:14455890-14455891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71317536	chr18:14455901-14455902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62080635	chr18:14455902-14455903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376199895	chr18:14455909-14455910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544569185	chr18:14455917-14455918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11080761	chr18:14455918-14455919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs11080762	chr18:14455921-14455922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs71328375	chr18:14455942-14455943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113387332	chr18:14455947-14455948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71317535	chr18:14455957-14455958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397815094	chr18:14455958-14455959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71317534	chr18:14455974-14455975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547090834	chr18:14455999-14456000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71317533	chr18:14456001-14456002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144493742	chr18:14456002-14456003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565721704	chr18:14456005-14456006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71317532	chr18:14456019-14456020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532930430	chr18:14456025-14456026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569259850	chr18:14456027-14456028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538154430	chr18:14456077-14456078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550123156	chr18:14456084-14456085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192778979	chr18:14456130-14456131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202064348	chr18:14456230-14456231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62080636	chr18:14456235-14456236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553061260	chr18:14456244-14456245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62080637	chr18:14456272-14456273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200448222	chr18:14456280-14456281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535681801	chr18:14456364-14456365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569269260	chr18:14456374-14456375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555603902	chr18:14456456-14456457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575567524	chr18:14456483-14456484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544532534	chr18:14456626-14456627	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
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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14451000-14458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14451200-14458000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:14453400-14457200	Weak transcription	Osteobl	bone
4	chr18:14454400-14456800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14455400-14457800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr18:14456800-14458600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:14457200-14458200	Enhancers	Osteobl	bone

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