Variant report

Variant	nsv909432
Chromosome Location	chr18:14526439-14590752
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	chr18:14528990-14529165	K562	blood:	n/a	n/a
2	BACH1	chr18:14531777-14531973	K562	blood:	n/a	chr18:14531838-14531852 chr18:14531807-14531821
3	CTCF	chr18:14529798-14529830	GM10248	blood:	n/a	n/a
4	CTCF	chr18:14556793-14556895	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr18:14568606-14568669	GM10248	blood:	n/a	n/a
6	CTCF	chr18:14584021-14584089	LNCaP	prostate:	n/a	n/a
7	CTCF	chr18:14580025-14580066	GM13976	blood:	n/a	n/a
8	CTCF	chr18:14590501-14590546	Fibrobl	skin:	n/a	n/a
9	CTCF	chr18:14577579-14577637	LNCaP	prostate:	n/a	n/a
10	CTCF	chr18:14590687-14590730	ProgFib	skin:	n/a	n/a
11	CTCF	chr18:14564619-14564680	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr18:14542934-14542970	Fibrobl	skin:	n/a	n/a
13	CTCF	chr18:14586158-14586166	GM10248	blood:	n/a	n/a
14	CTCF	chr18:14546145-14546185	GM13976	blood:	n/a	n/a
15	CTCF	chr18:14577019-14577086	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr18:14567211-14567256	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr18:14577119-14577185	LNCaP	prostate:	n/a	n/a
18	CTCF	chr18:14590463-14590500	ProgFib	skin:	n/a	n/a
19	ESR1	chr18:14534533-14534959	T-47D	breast:	n/a	n/a
20	FOS	chr18:14552195-14552423	MCF10A-Er-Src	breast:	n/a	chr18:14552283-14552294
21	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
22	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
23	FOS	chr18:14577970-14578538	MCF10A-Er-Src	breast:	n/a	chr18:14578215-14578225 chr18:14578215-14578224 chr18:14578215-14578225 chr18:14578215-14578225 chr18:14578215-14578225
24	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
25	FOS	chr18:14578038-14578364	MCF10A-Er-Src	breast:	n/a	chr18:14578215-14578225 chr18:14578215-14578224 chr18:14578215-14578225 chr18:14578215-14578225 chr18:14578215-14578225
26	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
27	FOS	chr18:14577964-14578426	MCF10A-Er-Src	breast:	n/a	chr18:14578215-14578225 chr18:14578215-14578224 chr18:14578215-14578225 chr18:14578215-14578225 chr18:14578215-14578225
28	FOS	chr18:14579294-14579423	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr18:14578027-14578426	MCF10A-Er-Src	breast:	n/a	chr18:14578215-14578225 chr18:14578215-14578224 chr18:14578215-14578225 chr18:14578215-14578225 chr18:14578215-14578225
30	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
31	FOXA1	chr18:14527889-14528058	T-47D	breast:	n/a	n/a
32	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
33	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
34	KAT2A	chr18:14562769-14563140	GM12878	blood:	n/a	n/a
35	MAFK	chr18:14527020-14527220	HepG2	liver:	n/a	chr18:14527126-14527137 chr18:14527125-14527136 chr18:14527121-14527137 chr18:14527124-14527138 chr18:14527126-14527137 chr18:14527123-14527132
36	MAFK	chr18:14577495-14577671	HepG2	liver:	n/a	n/a
37	MYC	chr18:14564355-14564427	MCF-7	breast:	n/a	n/a
38	MYC	chr18:14577962-14578334	MCF10A-Er-Src	breast:	n/a	chr18:14578145-14578152
39	MYC	chr18:14559666-14559842	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr18:14543583-14543670	MCF-7	breast:	n/a	n/a
41	MYC	chr18:14577957-14578353	MCF10A-Er-Src	breast:	n/a	chr18:14578145-14578152
42	POLR2A	chr18:14589588-14589709	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:14543486-14543621	A549	lung:	n/a	n/a
44	POLR2A	chr18:14569250-14569307	Gliobla	brain:	n/a	n/a
45	POLR2A	chr18:14567901-14567991	ProgFib	skin:	n/a	n/a
46	POLR2A	chr18:14564325-14564415	Gliobla	brain:	n/a	n/a
47	POLR2A	chr18:14542939-14542976	A549	lung:	n/a	n/a
48	POLR2A	chr18:14564327-14564412	MCF-7	breast:	n/a	n/a
49	REST	chr18:14563890-14563952	PANC-1	pancreas:	n/a	n/a
50	REST	chr18:14543464-14543666	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14543867-14543917	MCF-7	breast:	n/a
2	chr18:14543867-14543917	MCF-7	breast:	n/a
3	chr18:14543710-14543760	U87	brain:	n/a
4	chr18:14545004-14545054	HNPCEpiC	eye:	n/a
5	chr18:14543710-14543760	K562	blood:	n/a
6	chr18:14543710-14543760	HPAEpiC	pulmonary alveolar:	n/a
7	chr18:14545004-14545054	HepG2	liver:	n/a
8	chr18:14544733-14544783	GM06990	blood:	n/a
9	chr18:14543469-14543519	HPAEpiC	pulmonary alveolar:	n/a
10	chr18:14545004-14545054	HRPEpiC	eye:	n/a
11	chr18:14543768-14543818	PrEC	prostate:	n/a
12	chr18:14545004-14545054	GM12892	blood:	n/a
13	chr18:14543469-14543519	Hepatocyte	liver:	n/a
14	chr18:14544733-14544783	HEK293	kidney:	embryo
15	chr18:14545004-14545054	RPTEC	kidney:	n/a
16	chr18:14543469-14543519	HNPCEpiC	eye:	n/a
17	chr18:14545004-14545054	NHBE	bronchial:	n/a
18	chr18:14543710-14543760	PANC-1	pancreas:	n/a
19	chr18:14545004-14545054	CMK	blood:	n/a
20	chr18:14543768-14543818	HCF	heart:	n/a
21	chr18:14543161-14543211	GM06990	blood:	n/a
22	chr18:14543867-14543917	H1-hESC	embryonic stem cell:	embryo
23	chr18:14544733-14544783	ovcar-3	ovarian:	n/a
24	chr18:14543710-14543760	MCF-7	breast:	n/a
25	chr18:14544733-14544783	HCT-116	colon:	n/a
26	chr18:14543710-14543760	NHDF-neo	bronchial:	n/a
27	chr18:14543161-14543211	HL-60	blood:	n/a
28	chr18:14543161-14543211	AG04450	lung:	fetal
29	chr18:14543867-14543917	HIPEpiC	eye:	n/a
30	chr18:14545004-14545054	ovcar-3	ovarian:	n/a
31	chr18:14543710-14543760	GM12878	blood:	n/a
32	chr18:14544733-14544783	GM19239	blood:	n/a
33	chr18:14543768-14543818	HepG2	liver:	n/a
34	chr18:14543768-14543818	HUVEC	blood vessel:	n/a
35	chr18:14544733-14544783	SK-N-SH_RA	brain:	n/a
36	chr18:14544733-14544783	Hepatocyte	liver:	n/a
37	chr18:14543768-14543818	T-47D	breast:	n/a
38	chr18:14543768-14543818	SK-N-MC	brain:	n/a
39	chr18:14543469-14543519	HEK293	kidney:	embryo
40	chr18:14543469-14543519	BJ	skin:	n/a
41	chr18:14543768-14543818	Jurkat	blood:	n/a
42	chr18:14543161-14543211	RPTEC	kidney:	n/a
43	chr18:14545004-14545054	HCPEpiC	choroid plexus:	n/a
44	chr18:14544733-14544783	Hela-S3	cervix:	n/a
45	chr18:14543161-14543211	Caco-2	colon:	n/a
46	chr18:14543768-14543818	GM06990	blood:	n/a
47	chr18:14543469-14543519	NH-A	brain:	n/a
48	chr18:14544733-14544783	K562	blood:	n/a
49	chr18:14543768-14543818	HNPCEpiC	eye:	n/a
50	chr18:14543161-14543211	GM12878	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-7	chr18:14582085-14582201	l_1534_chr18:14567116-14601348_testes
2	lnc-POTEC-7	chr18:14567117-14567183	l_1534_chr18:14567116-14601348_testes

Variant related genes	Relation type
RNU6-1021P	TF binding region
OR4K7P	TF binding region
POTEC	TF binding region
RNU6-1021P	CpG island
OR4K7P	CpG island
POTEC	CpG island

Extended variants
information (count: 657 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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: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
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
Medulloblastoma	21163964	CNVD

Chromatin state (count:8 , 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
2	chr18:14552200-14552600	Enhancers	Osteobl	bone
3	chr18:14552200-14552800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14552800-14559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14559400-14559800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:14561800-14564200	Weak transcription	Fetal Heart	heart
7	chr18:14582000-14583000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:14582000-14583400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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