Variant report

Variant	nsv962898
Chromosome Location	chr18:14491541-14512580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14493023-14493053	GM13976	blood:	n/a	n/a
2	CTCF	chr18:14495737-14495748	GM13976	blood:	n/a	n/a
3	CTCF	chr18:14495694-14495733	GM13976	blood:	n/a	n/a
4	CTCF	chr18:14504143-14504240	Medullo	brain:	n/a	n/a
5	CTCF	chr18:14499905-14499942	GM13977	blood:	n/a	n/a
6	CTCF	chr18:14493495-14493637	GM13976	blood:	n/a	n/a
7	CTCF	chr18:14501013-14501147	Gliobla	brain:	n/a	n/a
8	CTCF	chr18:14491929-14492009	GM13976	blood:	n/a	n/a
9	FOS	chr18:14510728-14510981	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr18:14510738-14510971	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr18:14510726-14510948	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr18:14510750-14510948	MCF10A-Er-Src	breast:	n/a	n/a
13	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
14	PBX3	chr18:14510196-14510333	GM12878	blood:	n/a	n/a
15	POLR2A	chr18:14510875-14510977	A549	lung:	n/a	n/a
16	POLR2A	chr18:14510904-14510921	Gliobla	brain:	n/a	n/a
17	POLR2A	chr18:14501137-14501184	A549	lung:	n/a	n/a
18	POLR2A	chr18:14510961-14511062	Gliobla	brain:	n/a	n/a
19	POLR2A	chr18:14510772-14510983	U87	brain:	n/a	n/a
20	POLR2A	chr18:14510944-14510957	Gliobla	brain:	n/a	n/a
21	POLR2A	chr18:14510922-14510943	Gliobla	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14499446-14499496	GM12878	blood:	n/a
2	chr18:14511955-14512005	HRPEpiC	eye:	n/a
3	chr18:14511955-14512005	SK-N-MC	brain:	n/a
4	chr18:14511955-14512005	HPAEpiC	pulmonary alveolar:	n/a
5	chr18:14511955-14512005	K562	blood:	n/a
6	chr18:14511955-14512005	AG09309	skin:	n/a
7	chr18:14499446-14499496	HepG2	liver:	n/a
8	chr18:14511955-14512005	GM12878	blood:	n/a
9	chr18:14511955-14512005	CMK	blood:	n/a
10	chr18:14511955-14512005	HUVEC	blood vessel:	n/a
11	chr18:14499446-14499496	Hepatocyte	liver:	n/a
12	chr18:14499446-14499496	HCF	heart:	n/a
13	chr18:14499446-14499496	NB4	blood:	n/a
14	chr18:14499446-14499496	NHDF-neo	bronchial:	n/a
15	chr18:14499446-14499496	HAEpiC	amniotic membrane:	n/a
16	chr18:14511955-14512005	HMEC	breast:	n/a
17	chr18:14499446-14499496	Jurkat	blood:	n/a
18	chr18:14511955-14512005	MCF10A-Er-Src	breast:	n/a
19	chr18:14511955-14512005	AoSMC	blood vessel:	n/a
20	chr18:14499446-14499496	HL-60	blood:	n/a
21	chr18:14499446-14499496	NH-A	brain:	n/a
22	chr18:14499446-14499496	HRE	kidney:	n/a
23	chr18:14511955-14512005	PrEC	prostate:	n/a
24	chr18:14511955-14512005	HEEpiC	esophagus:	n/a
25	chr18:14499446-14499496	ECC-1	luminal epithelium:	n/a
26	chr18:14499446-14499496	SAEC	small airway:	n/a
27	chr18:14499446-14499496	HRCEpiC	kidney:	n/a
28	chr18:14511955-14512005	SK-N-SH_RA	brain:	n/a
29	chr18:14511955-14512005	AG04449	skin:	fetal
30	chr18:14511955-14512005	NB4	blood:	n/a
31	chr18:14499446-14499496	CMK	blood:	n/a
32	chr18:14499446-14499496	K562	blood:	n/a
33	chr18:14499446-14499496	AG10803	skin:	n/a
34	chr18:14499446-14499496	HEK293	kidney:	embryo
35	chr18:14499446-14499496	SK-N-SH_RA	brain:	n/a
36	chr18:14499446-14499496	ovcar-3	ovarian:	n/a
37	chr18:14499446-14499496	HNPCEpiC	eye:	n/a
38	chr18:14499446-14499496	HUVEC	blood vessel:	n/a
39	chr18:14511955-14512005	NHDF-neo	bronchial:	n/a
40	chr18:14499446-14499496	T-47D	breast:	n/a
41	chr18:14511955-14512005	ECC-1	luminal epithelium:	n/a
42	chr18:14499446-14499496	SK-N-MC	brain:	n/a
43	chr18:14499446-14499496	Hela-S3	cervix:	n/a
44	chr18:14511955-14512005	AG04450	lung:	fetal
45	chr18:14499446-14499496	PANC-1	pancreas:	n/a
46	chr18:14499446-14499496	HEEpiC	esophagus:	n/a
47	chr18:14499446-14499496	LNCaP	prostate:	n/a
48	chr18:14511955-14512005	HAEpiC	amniotic membrane:	n/a
49	chr18:14511955-14512005	HRCEpiC	kidney:	n/a
50	chr18:14499446-14499496	SKMC	muscle:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-1	chr18:14498591-14498724	ENSG00000265766.1
2	lnc-POTEC-1	chr18:14498591-14498705	NR_024076
3	lnc-POTEC-1	chr18:14498952-14499277	ENSG00000265766.1

No data

Variant related genes	Relation type
CXADRP3	TF binding region
CXADRP3	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140728508	chr18:14495606-14495607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9973171	chr18:14495615-14495616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560397179	chr18:14495616-14495617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554234717	chr18:14495695-14495696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574485646	chr18:14495721-14495722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183038570	chr18:14495760-14495761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527646570	chr18:14495784-14495785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138136325	chr18:14495787-14495788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188132672	chr18:14495798-14495799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545999145	chr18:14495829-14495830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192950347	chr18:14495885-14495886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200723331	chr18:14495917-14495918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545130954	chr18:14495922-14495923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149149329	chr18:14495953-14495954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542215273	chr18:14496020-14496021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6505911	chr18:14496037-14496038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530809210	chr18:14496042-14496043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533918465	chr18:14496061-14496062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71176042	chr18:14496081-14496082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550698998	chr18:14496107-14496108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564227812	chr18:14496112-14496113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112143247	chr18:14496150-14496151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546853115	chr18:14496181-14496182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549949761	chr18:14496182-14496183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537641910	chr18:14498638-14498639	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs557665463	chr18:14498650-14498651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571496860	chr18:14498688-14498689	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533955265	chr18:14498713-14498714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs554094674	chr18:14498714-14498715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs574051989	chr18:14498716-14498717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs28682993	chr18:14498977-14498978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs565458762	chr18:14498993-14498994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs112263768	chr18:14499089-14499090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs373932617	chr18:14499114-14499115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113709376	chr18:14499128-14499129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs539859362	chr18:14499251-14499252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs531430909	chr18:14499447-14499448	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs551127062	chr18:14499467-14499468	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs139579328	chr18:14499468-14499469	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs562418410	chr18:14499476-14499477	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs570114253	chr18:14501017-14501018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201862331	chr18:14501035-14501036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558565755	chr18:14501050-14501051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113688796	chr18:14501066-14501067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552675037	chr18:14501069-14501070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs141671707	chr18:14501080-14501081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186299834	chr18:14501104-14501105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs60861301	chr18:14501141-14501142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs58663729	chr18:14501149-14501150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113101017	chr18:14501164-14501165	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14495600-14496200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr18:14510600-14511400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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