Variant report

Variant	nsv909427
Chromosome Location	chr18:14473743-14542648
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	chr18:14495694-14495733	GM13976	blood:	n/a	n/a
4	CTCF	chr18:14478958-14479058	GM10266	blood:	n/a	n/a
5	CTCF	chr18:14499905-14499942	GM13977	blood:	n/a	n/a
6	CTCF	chr18:14488522-14488546	A549	lung:	n/a	n/a
7	CTCF	chr18:14529798-14529830	GM10248	blood:	n/a	n/a
8	CTCF	chr18:14504143-14504240	Medullo	brain:	n/a	n/a
9	CTCF	chr18:14493495-14493637	GM13976	blood:	n/a	n/a
10	CTCF	chr18:14488610-14488703	Gliobla	brain:	n/a	n/a
11	CTCF	chr18:14501013-14501147	Gliobla	brain:	n/a	n/a
12	CTCF	chr18:14520722-14520771	GM20000	blood:	n/a	n/a
13	CTCF	chr18:14495737-14495748	GM13976	blood:	n/a	n/a
14	CTCF	chr18:14491929-14492009	GM13976	blood:	n/a	n/a
15	CTCF	chr18:14479154-14479258	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr18:14493023-14493053	GM13976	blood:	n/a	n/a
17	ESR1	chr18:14525097-14525670	T-47D	breast:	n/a	n/a
18	ESR1	chr18:14534533-14534959	T-47D	breast:	n/a	n/a
19	ESR1	chr18:14488925-14489320	T-47D	breast:	n/a	n/a
20	ESR1	chr18:14488901-14489254	T-47D	breast:	n/a	n/a
21	ESR1	chr18:14525200-14525668	T-47D	breast:	n/a	n/a
22	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
23	FOS	chr18:14510738-14510971	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr18:14510750-14510948	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr18:14510726-14510948	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr18:14517337-14517401	MCF10A-Er-Src	breast:	n/a	n/a
27	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
28	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
29	FOS	chr18:14510728-14510981	MCF10A-Er-Src	breast:	n/a	n/a
30	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
31	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
32	FOXA1	chr18:14527889-14528058	T-47D	breast:	n/a	n/a
33	GATA2	chr18:14495318-14495563	K562	blood:	n/a	chr18:14495531-14495552 chr18:14495538-14495545 chr18:14495536-14495545 chr18:14495538-14495545 chr18:14495527-14495544 chr18:14495536-14495546 chr18:14495538-14495545
34	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
35	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
36	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
37	MAFK	chr18:14482148-14482336	HepG2	liver:	n/a	chr18:14482182-14482198 chr18:14482182-14482193 chr18:14482182-14482193
38	MYC	chr18:14488421-14488479	MCF-7	breast:	n/a	n/a
39	MYC	chr18:14474691-14474820	MCF-7	breast:	n/a	n/a
40	MYC	chr18:14488524-14488544	MCF-7	breast:	n/a	n/a
41	PBX3	chr18:14525536-14525667	GM12878	blood:	n/a	n/a
42	PBX3	chr18:14510196-14510333	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:14489941-14489955	Gliobla	brain:	n/a	n/a
44	POLR2A	chr18:14510772-14510983	U87	brain:	n/a	n/a
45	POLR2A	chr18:14479243-14479283	MCF-7	breast:	n/a	n/a
46	POLR2A	chr18:14488330-14488513	Gliobla	brain:	n/a	n/a
47	POLR2A	chr18:14488560-14488656	Gliobla	brain:	n/a	n/a
48	POLR2A	chr18:14488307-14488314	Gliobla	brain:	n/a	n/a
49	POLR2A	chr18:14488313-14488327	A549	lung:	n/a	n/a
50	POLR2A	chr18:14510944-14510957	Gliobla	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14475532-14475582	PANC-1	pancreas:	n/a
2	chr18:14499446-14499496	RPTEC	kidney:	n/a
3	chr18:14478401-14478451	ovcar-3	ovarian:	n/a
4	chr18:14475532-14475582	PANC-1	pancreas:	n/a
5	chr18:14499446-14499496	RPTEC	kidney:	n/a
6	chr18:14478401-14478451	ovcar-3	ovarian:	n/a
7	chr18:14499446-14499496	PANC-1	pancreas:	n/a
8	chr18:14489728-14489778	HPAEpiC	pulmonary alveolar:	n/a
9	chr18:14511955-14512005	HAEpiC	amniotic membrane:	n/a
10	chr18:14473877-14473927	HCPEpiC	choroid plexus:	n/a
11	chr18:14473877-14473927	HEK293	kidney:	embryo
12	chr18:14488053-14488103	CMK	blood:	n/a
13	chr18:14475532-14475582	ECC-1	luminal epithelium:	n/a
14	chr18:14475532-14475582	BE2_C	brain:	n/a
15	chr18:14475532-14475582	K562	blood:	n/a
16	chr18:14499446-14499496	PFSK-1	brain:	n/a
17	chr18:14486026-14486076	PFSK-1	brain:	n/a
18	chr18:14473877-14473927	ECC-1	luminal epithelium:	n/a
19	chr18:14499446-14499496	AG04449	skin:	fetal
20	chr18:14489728-14489778	MCF10A-Er-Src	breast:	n/a
21	chr18:14488053-14488103	PFSK-1	brain:	n/a
22	chr18:14486026-14486076	SKMC	muscle:	n/a
23	chr18:14478401-14478451	HUVEC	blood vessel:	n/a
24	chr18:14487209-14487259	AG09309	skin:	n/a
25	chr18:14489728-14489778	ProgFib	skin:	n/a
26	chr18:14499446-14499496	HMEC	breast:	n/a
27	chr18:14486026-14486076	AG10803	skin:	n/a
28	chr18:14486026-14486076	A549	lung:	n/a
29	chr18:14489728-14489778	A549	lung:	n/a
30	chr18:14473877-14473927	Caco-2	colon:	n/a
31	chr18:14486026-14486076	HCF	heart:	n/a
32	chr18:14486026-14486076	NH-A	brain:	n/a
33	chr18:14473877-14473927	HRPEpiC	eye:	n/a
34	chr18:14475532-14475582	GM12878	blood:	n/a
35	chr18:14486026-14486076	Jurkat	blood:	n/a
36	chr18:14473877-14473927	PFSK-1	brain:	n/a
37	chr18:14486026-14486076	HNPCEpiC	eye:	n/a
38	chr18:14473877-14473927	AG04449	skin:	fetal
39	chr18:14499446-14499496	HAEpiC	amniotic membrane:	n/a
40	chr18:14487209-14487259	HEK293	kidney:	embryo
41	chr18:14511955-14512005	AoSMC	blood vessel:	n/a
42	chr18:14511955-14512005	U87	brain:	n/a
43	chr18:14511955-14512005	SAEC	small airway:	n/a
44	chr18:14488053-14488103	HepG2	liver:	n/a
45	chr18:14473877-14473927	HPAEpiC	pulmonary alveolar:	n/a
46	chr18:14486026-14486076	NHBE	bronchial:	n/a
47	chr18:14486026-14486076	HepG2	liver:	n/a
48	chr18:14488053-14488103	GM12892	blood:	n/a
49	chr18:14487209-14487259	HCT-116	colon:	n/a
50	chr18:14475532-14475582	MCF-7	breast:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-1	chr18:14477954-14479392	NR_024076
2	lnc-POTEC-1	chr18:14498591-14498705	NR_024076
3	lnc-POTEC-1	chr18:14477954-14479392	ENSG00000265766.1
4	lnc-POTEC-1	chr18:14490524-14490579	ENSG00000265766.1
5	lnc-POTEC-1	chr18:14498952-14499277	ENSG00000265766.1
6	lnc-POTEC-1	chr18:14490524-14490579	NR_024076
7	lnc-POTEC-1	chr18:14498591-14498724	ENSG00000265766.1

Variant related genes	Relation type
CXADRP3	TF binding region
GRAMD4P7	TF binding region
RNU6-1021P	TF binding region
CXADRP3	CpG island
GRAMD4P7	CpG island
RNU6-1021P	CpG island

Extended variants
information (count: 739 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28385330	chr18:14473743-14473744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533110646	chr18:14473751-14473752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11080768	chr18:14473789-14473790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566691649	chr18:14473876-14473877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529168484	chr18:14473898-14473899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549134643	chr18:14473907-14473908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568879128	chr18:14473914-14473915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373146633	chr18:14473924-14473925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537961179	chr18:14473945-14473946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557785845	chr18:14473951-14473952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192982662	chr18:14473952-14473953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534169577	chr18:14473963-14473964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12326508	chr18:14473970-14473971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574279314	chr18:14473982-14473983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370872305	chr18:14473990-14473991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543277345	chr18:14474019-14474020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555416649	chr18:14474026-14474027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28404214	chr18:14474041-14474042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs561940371	chr18:14474054-14474055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544325459	chr18:14474057-14474058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564214362	chr18:14474064-14474065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577800565	chr18:14474072-14474073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540085629	chr18:14474074-14474075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560269532	chr18:14474117-14474118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112831465	chr18:14474123-14474124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549221198	chr18:14474151-14474152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111500279	chr18:14474178-14474179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111525553	chr18:14474188-14474189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531415075	chr18:14474195-14474196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531642690	chr18:14474196-14474197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551352694	chr18:14474206-14474207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571442326	chr18:14474221-14474222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188666504	chr18:14474233-14474234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114456852	chr18:14474235-14474236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567812004	chr18:14474261-14474262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112021024	chr18:14474269-14474270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62080656	chr18:14474271-14474272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs371092880	chr18:14474306-14474307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556846940	chr18:14474320-14474321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374086865	chr18:14474358-14474359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551535957	chr18:14474393-14474394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576804336	chr18:14474420-14474421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9954155	chr18:14474441-14474442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557767423	chr18:14474448-14474449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577689513	chr18:14474470-14474471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71365243	chr18:14474510-14474511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560100598	chr18:14474511-14474512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573735347	chr18:14474562-14474563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542456028	chr18:14474584-14474585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553492353	chr18:14474588-14474589	Weak transcription	n/a	n/a	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	chr18:14473200-14480800	Weak transcription	Osteobl	bone
2	chr18:14485800-14486000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:14485800-14486200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14487000-14489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:14489800-14490000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:14495600-14496200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:14510600-14511400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr18:14531400-14532200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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