Variant report

Variant	nsv514861
Chromosome Location	chr18:14477547-14594525
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	CEBPB	chr18:14593685-14593885	HepG2	liver:	n/a	n/a
4	CTCF	chr18:14501013-14501147	Gliobla	brain:	n/a	n/a
5	CTCF	chr18:14568606-14568669	GM10248	blood:	n/a	n/a
6	CTCF	chr18:14495694-14495733	GM13976	blood:	n/a	n/a
7	CTCF	chr18:14564619-14564680	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr18:14577579-14577637	LNCaP	prostate:	n/a	n/a
9	CTCF	chr18:14488522-14488546	A549	lung:	n/a	n/a
10	CTCF	chr18:14580025-14580066	GM13976	blood:	n/a	n/a
11	CTCF	chr18:14542934-14542970	Fibrobl	skin:	n/a	n/a
12	CTCF	chr18:14556793-14556895	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr18:14590687-14590730	ProgFib	skin:	n/a	n/a
14	CTCF	chr18:14488610-14488703	Gliobla	brain:	n/a	n/a
15	CTCF	chr18:14577019-14577086	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr18:14493495-14493637	GM13976	blood:	n/a	n/a
17	CTCF	chr18:14590501-14590546	Fibrobl	skin:	n/a	n/a
18	CTCF	chr18:14546145-14546185	GM13976	blood:	n/a	n/a
19	CTCF	chr18:14491929-14492009	GM13976	blood:	n/a	n/a
20	CTCF	chr18:14520722-14520771	GM20000	blood:	n/a	n/a
21	CTCF	chr18:14577119-14577185	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:14495737-14495748	GM13976	blood:	n/a	n/a
23	CTCF	chr18:14590463-14590500	ProgFib	skin:	n/a	n/a
24	CTCF	chr18:14591073-14591160	Medullo	brain:	n/a	n/a
25	CTCF	chr18:14499905-14499942	GM13977	blood:	n/a	n/a
26	CTCF	chr18:14586158-14586166	GM10248	blood:	n/a	n/a
27	CTCF	chr18:14504143-14504240	Medullo	brain:	n/a	n/a
28	CTCF	chr18:14479154-14479258	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr18:14529798-14529830	GM10248	blood:	n/a	n/a
30	CTCF	chr18:14493023-14493053	GM13976	blood:	n/a	n/a
31	CTCF	chr18:14584021-14584089	LNCaP	prostate:	n/a	n/a
32	CTCF	chr18:14567211-14567256	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr18:14478958-14479058	GM10266	blood:	n/a	n/a
34	ESR1	chr18:14488925-14489320	T-47D	breast:	n/a	n/a
35	ESR1	chr18:14525200-14525668	T-47D	breast:	n/a	n/a
36	ESR1	chr18:14525097-14525670	T-47D	breast:	n/a	n/a
37	ESR1	chr18:14534533-14534959	T-47D	breast:	n/a	n/a
38	ESR1	chr18:14488901-14489254	T-47D	breast:	n/a	n/a
39	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
40	FOS	chr18:14510750-14510948	MCF10A-Er-Src	breast:	n/a	n/a
41	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
42	FOS	chr18:14510726-14510948	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr18:14552195-14552423	MCF10A-Er-Src	breast:	n/a	chr18:14552283-14552294
44	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
45	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
46	FOS	chr18:14510728-14510981	MCF10A-Er-Src	breast:	n/a	n/a
47	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
48	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
49	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
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14543768-14543818	NHDF-neo	bronchial:	n/a
2	chr18:14486026-14486076	HEEpiC	esophagus:	n/a
3	chr18:14489728-14489778	NB4	blood:	n/a
4	chr18:14543161-14543211	AG09309	skin:	n/a
5	chr18:14543469-14543519	SK-N-SH	brain:	n/a
6	chr18:14544733-14544783	HRE	kidney:	n/a
7	chr18:14543768-14543818	GM19239	blood:	n/a
8	chr18:14543161-14543211	HEEpiC	esophagus:	n/a
9	chr18:14489728-14489778	PrEC	prostate:	n/a
10	chr18:14545004-14545054	K562	blood:	n/a
11	chr18:14543867-14543917	U87	brain:	n/a
12	chr18:14543768-14543818	K562	blood:	n/a
13	chr18:14486026-14486076	A549	lung:	n/a
14	chr18:14543161-14543211	MCF10A-Er-Src	breast:	n/a
15	chr18:14489728-14489778	AG09309	skin:	n/a
16	chr18:14544733-14544783	IMR90	lung:	fetal
17	chr18:14486026-14486076	MCF-7	breast:	n/a
18	chr18:14489728-14489778	GM06990	blood:	n/a
19	chr18:14486026-14486076	HL-60	blood:	n/a
20	chr18:14543469-14543519	MCF10A-Er-Src	breast:	n/a
21	chr18:14488053-14488103	RPTEC	kidney:	n/a
22	chr18:14543469-14543519	LNCaP	prostate:	n/a
23	chr18:14486026-14486076	HRPEpiC	eye:	n/a
24	chr18:14499446-14499496	HUVEC	blood vessel:	n/a
25	chr18:14543469-14543519	AG10803	skin:	n/a
26	chr18:14487209-14487259	PFSK-1	brain:	n/a
27	chr18:14478401-14478451	ECC-1	luminal epithelium:	n/a
28	chr18:14543161-14543211	HRE	kidney:	n/a
29	chr18:14488053-14488103	AG04449	skin:	fetal
30	chr18:14545004-14545054	RPTEC	kidney:	n/a
31	chr18:14543469-14543519	MCF-7	breast:	n/a
32	chr18:14543469-14543519	HMEC	breast:	n/a
33	chr18:14543768-14543818	AG09309	skin:	n/a
34	chr18:14478401-14478451	ProgFib	skin:	n/a
35	chr18:14499446-14499496	PFSK-1	brain:	n/a
36	chr18:14486026-14486076	HRE	kidney:	n/a
37	chr18:14499446-14499496	HEEpiC	esophagus:	n/a
38	chr18:14511955-14512005	AG09309	skin:	n/a
39	chr18:14511955-14512005	HMEC	breast:	n/a
40	chr18:14499446-14499496	HRCEpiC	kidney:	n/a
41	chr18:14478401-14478451	HIPEpiC	eye:	n/a
42	chr18:14489728-14489778	MCF-7	breast:	n/a
43	chr18:14511955-14512005	BE2_C	brain:	n/a
44	chr18:14487209-14487259	HCF	heart:	n/a
45	chr18:14543768-14543818	GM12878	blood:	n/a
46	chr18:14543710-14543760	AG04450	lung:	fetal
47	chr18:14543768-14543818	SKMC	muscle:	n/a
48	chr18:14544733-14544783	SK-N-SH	brain:	n/a
49	chr18:14487209-14487259	NHBE	bronchial:	n/a
50	chr18:14543867-14543917	ECC-1	luminal epithelium:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-7	chr18:14567117-14567183	l_1534_chr18:14567116-14601348_testes
2	lnc-POTEC-1	chr18:14498591-14498705	NR_024076
3	lnc-POTEC-1	chr18:14477954-14479392	NR_024076
4	lnc-POTEC-1	chr18:14498591-14498724	ENSG00000265766.1
5	lnc-POTEC-1	chr18:14490524-14490579	NR_024076
6	lnc-POTEC-1	chr18:14477954-14479392	ENSG00000265766.1
7	lnc-POTEC-1	chr18:14498952-14499277	ENSG00000265766.1
8	lnc-POTEC-1	chr18:14490524-14490579	ENSG00000265766.1
9	lnc-POTEC-7	chr18:14582085-14582201	l_1534_chr18:14567116-14601348_testes

Variant related genes	Relation type
CXADRP3	TF binding region
GRAMD4P7	TF binding region
RNU6-1021P	TF binding region
OR4K7P	TF binding region
POTEC	TF binding region
CXADRP3	CpG island
GRAMD4P7	CpG island
RNU6-1021P	CpG island
OR4K7P	CpG island
POTEC	CpG island

Extended variants
information (count: 1148 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545775724	chr18:14477552-14477553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200837371	chr18:14477557-14477558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562253873	chr18:14477596-14477597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559220031	chr18:14477605-14477606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528171349	chr18:14477645-14477646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184705975	chr18:14477689-14477690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201648940	chr18:14477709-14477710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568226883	chr18:14477763-14477764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530836137	chr18:14477931-14477932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550845935	chr18:14477955-14477956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570720268	chr18:14477974-14477975	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs539488961	chr18:14478003-14478004	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs553315004	chr18:14478049-14478050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs71217358	chr18:14478141-14478142	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs566878699	chr18:14478156-14478157	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs535913224	chr18:14478185-14478186	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs555555494	chr18:14478226-14478227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs9956181	chr18:14478229-14478230	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs71217359	chr18:14478266-14478267	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs544400930	chr18:14478280-14478281	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs558072722	chr18:14478290-14478291	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs71217360	chr18:14478296-14478297	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs578187428	chr18:14478326-14478327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574068581	chr18:14478348-14478349	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs545512319	chr18:14478366-14478367	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs559274536	chr18:14478394-14478395	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs528190459	chr18:14478405-14478406	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs541907399	chr18:14478406-14478407	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs55991320	chr18:14478460-14478461	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs561869280	chr18:14478484-14478485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs530771570	chr18:14478492-14478493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs550784777	chr18:14478498-14478499	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs370264378	chr18:14478504-14478505	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs533233396	chr18:14478575-14478576	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs546697665	chr18:14478588-14478589	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534841925	chr18:14478592-14478593	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs566820694	chr18:14478616-14478617	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs535561269	chr18:14478617-14478618	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs549017697	chr18:14478623-14478624	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs569002642	chr18:14478633-14478634	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs538084707	chr18:14478636-14478637	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs141501433	chr18:14478647-14478648	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564162255	chr18:14478652-14478653	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs578205019	chr18:14478657-14478658	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs534472726	chr18:14478668-14478669	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs189476829	chr18:14478683-14478684	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572753583	chr18:14478690-14478691	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs541842018	chr18:14478705-14478706	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs561805230	chr18:14478707-14478708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs575394353	chr18:14478799-14478800	Weak transcription	lncRNA	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:15 , 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
9	chr18:14552200-14552600	Enhancers	Osteobl	bone
10	chr18:14552200-14552800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:14552800-14559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:14559400-14559800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:14561800-14564200	Weak transcription	Fetal Heart	heart
14	chr18:14582000-14583000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:14582000-14583400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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