Variant report

Variant	esv3433768
Chromosome Location	chr18:14528452-14534850
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	BACH1	chr18:14531777-14531973	K562	blood:	n/a	chr18:14531838-14531852 chr18:14531807-14531821
2	BACH1	chr18:14528990-14529165	K562	blood:	n/a	n/a
3	CTCF	chr18:14529798-14529830	GM10248	blood:	n/a	n/a
4	ESR1	chr18:14534533-14534959	T-47D	breast:	n/a	n/a
5	FOS	chr18:14531642-14532015	MCF10A-Er-Src	breast:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531841-14531849 chr18:14531811-14531818
6	FOS	chr18:14531641-14532006	MCF10A-Er-Src	breast:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531841-14531849 chr18:14531811-14531818
7	FOS	chr18:14531648-14532007	MCF10A-Er-Src	breast:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531841-14531849 chr18:14531811-14531818
8	FOS	chr18:14531635-14532007	MCF10A-Er-Src	breast:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531841-14531849 chr18:14531811-14531818
9	FOSL2	chr18:14531622-14531890	HepG2	liver:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531841-14531849 chr18:14531811-14531818
10	JUN	chr18:14531801-14532001	HepG2	liver:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531841-14531849 chr18:14531811-14531818
11	JUND	chr18:14531774-14531999	HepG2	liver:	n/a	chr18:14531841-14531848 chr18:14531839-14531851 chr18:14531841-14531850 chr18:14531808-14531820 chr18:14531810-14531818 chr18:14531809-14531818 chr18:14531808-14531819 chr18:14531839-14531850 chr18:14531841-14531849 chr18:14531811-14531818
12	STAT3	chr18:14531803-14531993	MCF10A-Er-Src	breast:	n/a	chr18:14531809-14531818 chr18:14531841-14531850 chr18:14531840-14531849 chr18:14531872-14531886 chr18:14531810-14531819
13	STAT3	chr18:14531759-14531996	MCF10A-Er-Src	breast:	n/a	chr18:14531809-14531818 chr18:14531841-14531850 chr18:14531840-14531849 chr18:14531872-14531886 chr18:14531810-14531819
14	STAT3	chr18:14531768-14532005	MCF10A-Er-Src	breast:	n/a	chr18:14531809-14531818 chr18:14531841-14531850 chr18:14531840-14531849 chr18:14531872-14531886 chr18:14531810-14531819
15	ZBTB33	chr18:14532970-14533210	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNU6-1021P	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141251039	chr18:14531409-14531410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529268917	chr18:14531415-14531416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543165217	chr18:14531458-14531459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562922835	chr18:14531485-14531486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112607899	chr18:14531491-14531492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191643892	chr18:14531496-14531497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565332855	chr18:14531512-14531513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528014637	chr18:14531601-14531602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547651675	chr18:14531602-14531603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369593629	chr18:14531680-14531681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566155096	chr18:14531687-14531688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535040358	chr18:14531701-14531702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548681405	chr18:14531739-14531740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568974423	chr18:14531768-14531769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537541014	chr18:14531771-14531772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554312257	chr18:14531799-14531800	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557960988	chr18:14531807-14531808	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147412431	chr18:14531831-14531832	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534094301	chr18:14531865-14531866	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs199687853	chr18:14531866-14531867	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200756232	chr18:14531951-14531952	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183922989	chr18:14531953-14531954	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs28645692	chr18:14531961-14531962	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574085600	chr18:14532004-14532005	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370587011	chr18:14532029-14532030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543000668	chr18:14532164-14532165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9635834	chr18:14532169-14532170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562728004	chr18:14532175-14532176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9635835	chr18:14532183-14532184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536545241	chr18:14532994-14532995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112228959	chr18:14533028-14533029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201172379	chr18:14533034-14533035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs576341819	chr18:14533047-14533048	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545507772	chr18:14533068-14533069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs202042216	chr18:14533084-14533085	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs565190252	chr18:14533096-14533097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs45610131	chr18:14533105-14533106	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572317458	chr18:14533129-14533130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541271454	chr18:14533137-14533138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs561143344	chr18:14533150-14533151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372429579	chr18:14534550-14534551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543611009	chr18:14534571-14534572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557521774	chr18:14534579-14534580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs577509896	chr18:14534585-14534586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546452891	chr18:14534593-14534594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530467322	chr18:14534671-14534672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564905903	chr18:14534688-14534689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550258268	chr18:14534699-14534700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112494500	chr18:14534729-14534730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572034760	chr18:14534744-14534745	Inactive region	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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14531400-14532200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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