Variant report

Variant	esv1849739
Chromosome Location	chr18:14737066-14745619
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	chr18:14744897-14744925	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr18:14742258-14742293	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr18:14744791-14744872	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr18:14742291-14742301	Kidney_OC	kidney:	n/a	n/a
5	FOS	chr18:14739059-14739437	MCF10A-Er-Src	breast:	n/a	chr18:14739258-14739266 chr18:14739257-14739267
6	FOS	chr18:14739038-14739472	MCF10A-Er-Src	breast:	n/a	chr18:14739258-14739266 chr18:14739257-14739267
7	FOS	chr18:14739066-14739440	MCF10A-Er-Src	breast:	n/a	chr18:14739258-14739266 chr18:14739257-14739267
8	FOS	chr18:14739046-14739523	MCF10A-Er-Src	breast:	n/a	chr18:14739258-14739266 chr18:14739257-14739267
9	MAFK	chr18:14738678-14738903	HepG2	liver:	n/a	n/a
10	MYC	chr18:14739093-14739530	MCF10A-Er-Src	breast:	n/a	chr18:14739258-14739267
11	MYC	chr18:14739162-14739449	MCF10A-Er-Src	breast:	n/a	chr18:14739258-14739267
12	POLR2A	chr18:14741724-14741910	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr18:14745593-14745638	GM12878	blood:	n/a	n/a
14	STAT3	chr18:14739088-14739437	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr18:14739096-14739577	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ANKRD30B	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553805073	chr18:14744023-14744024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191634508	chr18:14744025-14744026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184453184	chr18:14744027-14744028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571833286	chr18:14744040-14744041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188848363	chr18:14744206-14744207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115931462	chr18:14744207-14744208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564146476	chr18:14744242-14744243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9303849	chr18:14744261-14744262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs34925647	chr18:14744282-14744283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140239844	chr18:14744291-14744292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572370184	chr18:14744301-14744302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541187432	chr18:14744302-14744303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561385504	chr18:14744304-14744305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530239654	chr18:14744344-14744345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181439033	chr18:14744404-14744405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377540365	chr18:14744418-14744419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145337788	chr18:14744430-14744431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530301087	chr18:14744435-14744436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563668607	chr18:14744468-14744469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532651963	chr18:14744478-14744479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147675982	chr18:14744512-14744513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9951492	chr18:14744514-14744515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527241000	chr18:14744527-14744528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111518077	chr18:14744533-14744534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149790852	chr18:14744539-14744540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536496656	chr18:14744554-14744555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561847624	chr18:14744558-14744559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111714436	chr18:14744567-14744568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112174382	chr18:14744578-14744579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112708701	chr18:14744581-14744582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538572751	chr18:14744582-14744583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558788170	chr18:14744595-14744596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11873971	chr18:14744596-14744597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114441028	chr18:14744620-14744621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200428896	chr18:14744640-14744641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369505624	chr18:14744641-14744642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201252139	chr18:14744654-14744655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199556979	chr18:14744662-14744663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146821047	chr18:14744663-14744664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs66846773	chr18:14744673-14744674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554691117	chr18:14744674-14744675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9963735	chr18:14744695-14744696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111562291	chr18:14744700-14744701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140444277	chr18:14744763-14744764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368721468	chr18:14744767-14744768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549704264	chr18:14744777-14744778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34028578	chr18:14744794-14744795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563556373	chr18:14744805-14744806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532543068	chr18:14744826-14744827	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs187465122	chr18:14744839-14744840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14744000-14746800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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