Variant report

Variant	esv19881
Chromosome Location	chr18:14465617-14497381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:67)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:67 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14488610-14488703	Gliobla	brain:	n/a	n/a
2	CTCF	chr18:14479154-14479258	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr18:14469038-14469074	GM10248	blood:	n/a	n/a
4	CTCF	chr18:14469040-14469190	AG04449	skin:	n/a	n/a
5	CTCF	chr18:14493023-14493053	GM13976	blood:	n/a	n/a
6	CTCF	chr18:14468610-14468698	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr18:14468645-14468685	GM10248	blood:	n/a	n/a
8	CTCF	chr18:14495737-14495748	GM13976	blood:	n/a	n/a
9	CTCF	chr18:14493495-14493637	GM13976	blood:	n/a	n/a
10	CTCF	chr18:14488522-14488546	A549	lung:	n/a	n/a
11	CTCF	chr18:14491929-14492009	GM13976	blood:	n/a	n/a
12	CTCF	chr18:14495694-14495733	GM13976	blood:	n/a	n/a
13	CTCF	chr18:14478958-14479058	GM10266	blood:	n/a	n/a
14	E2F4	chr18:14470106-14470306	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr18:14465985-14466407	T-47D	breast:	n/a	n/a
16	EP300	chr18:14470092-14470810	T-47D	breast:	n/a	n/a
17	ESR1	chr18:14465690-14466562	T-47D	breast:	n/a	n/a
18	ESR1	chr18:14471003-14471663	T-47D	breast:	n/a	n/a
19	ESR1	chr18:14470994-14471677	T-47D	breast:	n/a	n/a
20	ESR1	chr18:14470046-14470702	T-47D	breast:	n/a	n/a
21	ESR1	chr18:14466031-14466335	T-47D	breast:	n/a	n/a
22	ESR1	chr18:14488901-14489254	T-47D	breast:	n/a	n/a
23	ESR1	chr18:14488925-14489320	T-47D	breast:	n/a	n/a
24	ESR1	chr18:14470071-14470734	T-47D	breast:	n/a	n/a
25	ESR1	chr18:14465747-14466589	T-47D	breast:	n/a	n/a
26	FOS	chr18:14470084-14470477	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr18:14470075-14470529	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr18:14470044-14470527	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr18:14466103-14466294	MCF10A-Er-Src	breast:	n/a	chr18:14466164-14466174 chr18:14466164-14466174 chr18:14466165-14466173
30	FOS	chr18:14466107-14466330	MCF10A-Er-Src	breast:	n/a	chr18:14466164-14466174 chr18:14466164-14466174 chr18:14466165-14466173
31	FOS	chr18:14466100-14466323	MCF10A-Er-Src	breast:	n/a	chr18:14466164-14466174 chr18:14466164-14466174 chr18:14466165-14466173
32	FOS	chr18:14470085-14470531	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXA1	chr18:14466041-14466307	T-47D	breast:	n/a	n/a
34	FOXA1	chr18:14470179-14470394	T-47D	breast:	n/a	n/a
35	FOXA1	chr18:14470164-14470396	T-47D	breast:	n/a	n/a
36	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
37	GATA3	chr18:14470301-14470703	T-47D	breast:	n/a	n/a
38	GATA3	chr18:14466036-14466323	T-47D	breast:	n/a	n/a
39	GATA3	chr18:14466038-14466262	T-47D	breast:	n/a	n/a
40	MAFK	chr18:14482148-14482336	HepG2	liver:	n/a	chr18:14482182-14482198 chr18:14482182-14482193 chr18:14482182-14482193
41	MYC	chr18:14488421-14488479	MCF-7	breast:	n/a	n/a
42	MYC	chr18:14470103-14470471	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr18:14474691-14474820	MCF-7	breast:	n/a	n/a
44	MYC	chr18:14488524-14488544	MCF-7	breast:	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	chr18:14479214-14479299	A549	lung:	n/a	n/a
48	POLR2A	chr18:14488313-14488327	A549	lung:	n/a	n/a
49	POLR2A	chr18:14479227-14479324	A549	lung:	n/a	n/a
50	POLR2A	chr18:14479236-14479311	MCF-7	breast:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:14489728-14489778	PANC-1	pancreas:	n/a
2	chr18:14488053-14488103	GM19239	blood:	n/a
3	chr18:14488053-14488103	BJ	skin:	n/a
4	chr18:14475532-14475582	A549	lung:	n/a
5	chr18:14473877-14473927	SK-N-MC	brain:	n/a
6	chr18:14475532-14475582	HCM	heart:	n/a
7	chr18:14488053-14488103	ECC-1	luminal epithelium:	n/a
8	chr18:14470687-14470737	HCT-116	colon:	n/a
9	chr18:14470687-14470737	GM06990	blood:	n/a
10	chr18:14475532-14475582	AoSMC	blood vessel:	n/a
11	chr18:14488053-14488103	GM06990	blood:	n/a
12	chr18:14478401-14478451	ovcar-3	ovarian:	n/a
13	chr18:14489728-14489778	HUVEC	blood vessel:	n/a
14	chr18:14473877-14473927	HRE	kidney:	n/a
15	chr18:14470687-14470737	T-47D	breast:	n/a
16	chr18:14473877-14473927	SK-N-SH	brain:	n/a
17	chr18:14470687-14470737	GM12891	blood:	n/a
18	chr18:14473877-14473927	ProgFib	skin:	n/a
19	chr18:14488053-14488103	SK-N-SH	brain:	n/a
20	chr18:14488053-14488103	HRCEpiC	kidney:	n/a
21	chr18:14478401-14478451	PrEC	prostate:	n/a
22	chr18:14470687-14470737	ProgFib	skin:	n/a
23	chr18:14486026-14486076	HRPEpiC	eye:	n/a
24	chr18:14486026-14486076	A549	lung:	n/a
25	chr18:14473877-14473927	H1-hESC	embryonic stem cell:	embryo
26	chr18:14470687-14470737	HCM	heart:	n/a
27	chr18:14487209-14487259	HRPEpiC	eye:	n/a
28	chr18:14489728-14489778	HIPEpiC	eye:	n/a
29	chr18:14478401-14478451	HMEC	breast:	n/a
30	chr18:14470687-14470737	PANC-1	pancreas:	n/a
31	chr18:14487209-14487259	Hela-S3	cervix:	n/a
32	chr18:14470687-14470737	Jurkat	blood:	n/a
33	chr18:14489728-14489778	HEK293	kidney:	embryo
34	chr18:14486026-14486076	SK-N-SH	brain:	n/a
35	chr18:14478401-14478451	PANC-1	pancreas:	n/a
36	chr18:14489728-14489778	K562	blood:	n/a
37	chr18:14473877-14473927	HMEC	breast:	n/a
38	chr18:14488053-14488103	HepG2	liver:	n/a
39	chr18:14475532-14475582	K562	blood:	n/a
40	chr18:14473877-14473927	HAEpiC	amniotic membrane:	n/a
41	chr18:14478401-14478451	RPTEC	kidney:	n/a
42	chr18:14488053-14488103	HRE	kidney:	n/a
43	chr18:14475532-14475582	SKMC	muscle:	n/a
44	chr18:14486026-14486076	NHDF-neo	bronchial:	n/a
45	chr18:14489728-14489778	Hela-S3	cervix:	n/a
46	chr18:14488053-14488103	NH-A	brain:	n/a
47	chr18:14475532-14475582	HNPCEpiC	eye:	n/a
48	chr18:14475532-14475582	NT2-D1	testis:	n/a
49	chr18:14475532-14475582	PrEC	prostate:	n/a
50	chr18:14475532-14475582	GM12891	blood:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-1	chr18:14490524-14490579	NR_024076
2	lnc-POTEC-1	chr18:14477954-14479392	NR_024076
3	lnc-POTEC-1	chr18:14477954-14479392	ENSG00000265766.1
4	lnc-POTEC-1	chr18:14490524-14490579	ENSG00000265766.1

No data

Variant related genes	Relation type
GRAMD4P7	TF binding region
GRAMD4P7	CpG island

Extended variants
information (count: 1017 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1017 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539843041	chr18:14465631-14465632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71217342	chr18:14465650-14465651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71217343	chr18:14465675-14465676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540782921	chr18:14465714-14465715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191276596	chr18:14465719-14465720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560762476	chr18:14465734-14465735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71217344	chr18:14465795-14465796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71217345	chr18:14465817-14465818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2004653	chr18:14465834-14465835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532288920	chr18:14465842-14465843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146401295	chr18:14465850-14465851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71258690	chr18:14465866-14465867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562790671	chr18:14465886-14465887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76434671	chr18:14465898-14465899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113591807	chr18:14465916-14465917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77345640	chr18:14465923-14465924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71360390	chr18:14465933-14465934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71360391	chr18:14465939-14465940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71360392	chr18:14465957-14465958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74179397	chr18:14465975-14465976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532578172	chr18:14465979-14465980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182012038	chr18:14466003-14466004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71360393	chr18:14466007-14466008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186244342	chr18:14466047-14466048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528604995	chr18:14466052-14466053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548766124	chr18:14466108-14466109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71360394	chr18:14466126-14466127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568693222	chr18:14466138-14466139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74179398	chr18:14466152-14466153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537323168	chr18:14466178-14466179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529879734	chr18:14466179-14466180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569544137	chr18:14466186-14466187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71217346	chr18:14466188-14466189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538675822	chr18:14466205-14466206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558134335	chr18:14466245-14466246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368926180	chr18:14466262-14466263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71217347	chr18:14466263-14466264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71217348	chr18:14466281-14466282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12955545	chr18:14466318-14466319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12954417	chr18:14466340-14466341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143526472	chr18:14466341-14466342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571772032	chr18:14466395-14466396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201147040	chr18:14466425-14466426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3889399	chr18:14466439-14466440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9957724	chr18:14466507-14466508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574606374	chr18:14466509-14466510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543341773	chr18:14466514-14466515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557268634	chr18:14466524-14466525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9945708	chr18:14466525-14466526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546178145	chr18:14466546-14466547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14458600-14470000	Weak transcription	Osteobl	bone
2	chr18:14465600-14465800	Enhancers	HMEC	breast
3	chr18:14465800-14466600	Weak transcription	HMEC	breast
4	chr18:14466600-14467200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:14466600-14471600	Enhancers	HMEC	breast
6	chr18:14469200-14470000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:14469600-14471400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:14469800-14471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:14470000-14470600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:14470000-14470600	Enhancers	Osteobl	bone
11	chr18:14470000-14470800	Enhancers	Placenta	Placenta
12	chr18:14470000-14471000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:14470000-14471200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:14470000-14472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr18:14470000-14472400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr18:14470600-14470800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:14470600-14471200	Flanking Active TSS	Osteobl	bone
18	chr18:14471200-14472200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:14471200-14473200	Enhancers	Osteobl	bone
20	chr18:14471400-14471800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:14471800-14473400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:14472200-14472400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr18:14473200-14480800	Weak transcription	Osteobl	bone
24	chr18:14485800-14486000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:14485800-14486200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:14487000-14489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:14489800-14490000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:14495600-14496200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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