Variant report

Variant	nsv960264
Chromosome Location	chr18:14767039-14779040
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	CEBPB	chr18:14767722-14767954	K562	blood:	n/a	chr18:14767774-14767785
2	CEBPB	chr18:14767648-14767985	HepG2	liver:	n/a	chr18:14767774-14767785
3	CEBPB	chr18:14767603-14767959	Hela-S3	cervix:	n/a	chr18:14767774-14767785
4	CTCF	chr18:14773768-14773854	GM10248	blood:	n/a	n/a
5	CTCF	chr18:14772858-14772930	GM20000	blood:	n/a	n/a
6	CTCF	chr18:14776486-14776537	GM13976	blood:	n/a	n/a
7	CTCF	chr18:14775730-14775799	Lung_OC	lung:	n/a	n/a
8	E2F4	chr18:14768218-14768458	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr18:14767584-14767872	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr18:14767650-14767919	Hela-S3	cervix:	n/a	n/a
11	EP300	chr18:14769800-14769967	K562	blood:	n/a	n/a
12	FOS	chr18:14767499-14767969	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr18:14767460-14768153	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr18:14767559-14768196	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr18:14767530-14768049	MCF10A-Er-Src	breast:	n/a	n/a
16	MAFK	chr18:14773277-14773492	HepG2	liver:	n/a	chr18:14773386-14773402
17	MYC	chr18:14767603-14767925	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr18:14776453-14776550	ProgFib	skin:	n/a	n/a
19	POLR2A	chr18:14767645-14767925	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr18:14777838-14777851	Gliobla	brain:	n/a	n/a
21	STAT3	chr18:14767598-14768031	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr18:14767358-14767841	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr18:14767589-14767945	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr18:14768506-14768773	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr18:14770171-14770386	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr18:14767601-14767978	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000265481	TF binding region

Extended variants
information (count: 458 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:458 , 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	rs546793644	chr18:14767042-14767043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566498830	chr18:14767161-14767162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535752668	chr18:14767165-14767166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200342735	chr18:14767198-14767199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12954471	chr18:14767225-14767226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs575756185	chr18:14767269-14767270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559727011	chr18:14767271-14767272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538223976	chr18:14767294-14767295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558321370	chr18:14767301-14767302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570938502	chr18:14767354-14767355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573242043	chr18:14767370-14767371	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187175772	chr18:14767467-14767468	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540341756	chr18:14767481-14767482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs191630159	chr18:14767555-14767556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150728501	chr18:14767568-14767569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542958401	chr18:14767601-14767602	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs562817000	chr18:14767660-14767661	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs142688285	chr18:14767706-14767707	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs142367891	chr18:14767709-14767710	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs59157957	chr18:14767712-14767713	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185315943	chr18:14767719-14767720	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs543819942	chr18:14767722-14767723	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs9675898	chr18:14767773-14767774	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533049377	chr18:14767823-14767824	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188584164	chr18:14767843-14767844	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs566700470	chr18:14767903-14767904	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529097979	chr18:14767906-14767907	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs192852272	chr18:14767916-14767917	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565136085	chr18:14767944-14767945	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs72871984	chr18:14767954-14767955	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs538106389	chr18:14767955-14767956	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs558157364	chr18:14768091-14768092	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs34762881	chr18:14768105-14768106	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs571505592	chr18:14768109-14768110	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs551505080	chr18:14768127-14768128	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs370318314	chr18:14768161-14768162	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs374059696	chr18:14768195-14768196	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs9303858	chr18:14768196-14768197	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185756558	chr18:14768209-14768210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376414178	chr18:14768254-14768255	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189312764	chr18:14768255-14768256	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs567564821	chr18:14768301-14768302	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs114353552	chr18:14768341-14768342	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs116461031	chr18:14768395-14768396	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532783680	chr18:14768403-14768404	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs540371243	chr18:14768417-14768418	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559970570	chr18:14768487-14768488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371060475	chr18:14768495-14768496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549217541	chr18:14768577-14768578	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs180896273	chr18:14768680-14768681	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14749200-14768000	Weak transcription	Osteobl	bone
2	chr18:14767600-14768400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:14767800-14769800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14768000-14769400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:14768000-14769400	Enhancers	Osteobl	bone
6	chr18:14769400-14778400	Weak transcription	Osteobl	bone
7	chr18:14769800-14770400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:14770400-14770600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:14770600-14776200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:14776200-14776800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:14776200-14777400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr18:14776800-14777200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:14777200-14777600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:14778400-14779400	Enhancers	Osteobl	bone

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