Variant report

Variant	esv14524
Chromosome Location	chr18:14612921-14616051
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	chr18:14615203-14615244	GM13977	blood:	n/a	n/a
2	CTCF	chr18:14613442-14613531	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr18:14613957-14613979	Spleen_OC	spleen:	n/a	n/a

Variant related genes	Relation type
OR4K8P	TF binding region

Extended variants
information (count: 121 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149201055	chr18:14612940-14612941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190692962	chr18:14612945-14612946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534539677	chr18:14612974-14612975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554467022	chr18:14613042-14613043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532322010	chr18:14613111-14613112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2583768	chr18:14613120-14613121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572897184	chr18:14613128-14613129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535393806	chr18:14613299-14613300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113551446	chr18:14613310-14613311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555051836	chr18:14613327-14613328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575325339	chr18:14613368-14613369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543966177	chr18:14613370-14613371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558487263	chr18:14613419-14613420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3910686	chr18:14613454-14613455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540137778	chr18:14613457-14613458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4123342	chr18:14613506-14613507	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146167236	chr18:14613527-14613528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193016942	chr18:14613534-14613535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200968330	chr18:14613538-14613539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184480315	chr18:14613544-14613545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188131821	chr18:14613572-14613573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551575544	chr18:14613577-14613578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571881775	chr18:14613616-14613617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534360484	chr18:14613628-14613629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548124980	chr18:14613640-14613641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141889372	chr18:14613641-14613642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181317003	chr18:14613656-14613657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567993722	chr18:14613675-14613676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536523652	chr18:14613678-14613679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201128809	chr18:14613696-14613697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542441081	chr18:14613697-14613698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555385369	chr18:14613701-14613702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8093060	chr18:14613726-14613727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573556045	chr18:14613735-14613736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537953944	chr18:14613754-14613755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2646595	chr18:14613759-14613760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376773415	chr18:14613762-14613763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2646596	chr18:14613763-14613764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557383171	chr18:14613799-14613800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12960773	chr18:14613815-14613816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528155894	chr18:14613885-14613886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2646597	chr18:14613890-14613891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183909807	chr18:14613891-14613892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559902657	chr18:14613895-14613896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116160583	chr18:14613915-14613916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2646598	chr18:14613917-14613918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2646599	chr18:14613918-14613919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2646600	chr18:14613965-14613966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562942494	chr18:14613966-14613967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146651189	chr18:14613969-14613970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14610800-14614000	Enhancers	Dnd41	blood
2	chr18:14611200-14613600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:14611200-14613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr18:14611400-14613600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:14612000-14615800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr18:14612400-14613400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr18:14612400-14613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr18:14612600-14613800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr18:14612600-14613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr18:14613400-14614000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr18:14613600-14613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr18:14613600-14614000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr18:14613600-14614000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr18:14613800-14614000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:14613800-14614000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr18:14613800-14614600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr18:14615800-14616000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:14615800-14616000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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