Variant report

Variant	esv13975
Chromosome Location	chr18:14552243-14567604
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	chr18:14564619-14564680	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr18:14556793-14556895	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr18:14567211-14567256	Kidney_OC	kidney:	n/a	n/a
4	FOS	chr18:14552195-14552423	MCF10A-Er-Src	breast:	n/a	chr18:14552283-14552294
5	KAT2A	chr18:14562769-14563140	GM12878	blood:	n/a	n/a
6	MYC	chr18:14564355-14564427	MCF-7	breast:	n/a	n/a
7	MYC	chr18:14559666-14559842	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr18:14564327-14564412	MCF-7	breast:	n/a	n/a
9	POLR2A	chr18:14564325-14564415	Gliobla	brain:	n/a	n/a
10	REST	chr18:14563890-14563952	PANC-1	pancreas:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-7	chr18:14567117-14567183	l_1534_chr18:14567116-14601348_testes

Variant related genes	Relation type
OR4K7P	TF binding region

Extended variants
information (count: 486 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80126142	chr18:14552247-14552248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113439189	chr18:14552321-14552322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73960833	chr18:14552342-14552343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549345932	chr18:14552358-14552359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556354778	chr18:14552369-14552370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372905759	chr18:14552371-14552372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67513470	chr18:14552399-14552400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573439647	chr18:14552420-14552421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559242151	chr18:14552430-14552431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572645384	chr18:14552435-14552436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540250473	chr18:14552455-14552456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200016906	chr18:14552505-14552506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2646539	chr18:14552566-14552567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553784966	chr18:14552575-14552576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35796889	chr18:14552584-14552585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111824562	chr18:14552591-14552592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372293099	chr18:14552598-14552599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148146171	chr18:14552624-14552625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142590657	chr18:14552630-14552631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374899081	chr18:14552631-14552632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2646538	chr18:14552654-14552655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369319134	chr18:14552671-14552672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370448541	chr18:14552687-14552688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73421066	chr18:14552701-14552702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201561375	chr18:14552705-14552706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545252525	chr18:14552720-14552721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75809824	chr18:14552733-14552734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2646537	chr18:14552757-14552758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529559636	chr18:14552776-14552777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370585926	chr18:14552777-14552778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544869579	chr18:14552788-14552789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192477170	chr18:14552893-14552894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527571745	chr18:14552901-14552902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183872309	chr18:14552903-14552904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9973136	chr18:14552904-14552905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200041736	chr18:14552906-14552907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374665774	chr18:14552907-14552908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192186259	chr18:14552908-14552909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569805729	chr18:14552926-14552927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12963404	chr18:14552977-14552978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566396074	chr18:14552988-14552989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534971293	chr18:14552991-14552992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184247591	chr18:14552998-14552999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368954640	chr18:14553013-14553014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150273896	chr18:14553020-14553021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542751388	chr18:14553026-14553027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9973162	chr18:14553040-14553041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9973163	chr18:14553077-14553078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377468353	chr18:14553082-14553083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141815377	chr18:14553118-14553119	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
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14552200-14552600	Enhancers	Osteobl	bone
2	chr18:14552200-14552800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:14552800-14559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14559400-14559800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14561800-14564200	Weak transcription	Fetal Heart	heart

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