Variant report

Variant	esv1814681
Chromosome Location	chr18:14783028-14827894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14803342-14803401	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr18:14798303-14798342	Medullo	brain:	n/a	n/a
3	CTCF	chr18:14783033-14783063	GM20000	blood:	n/a	n/a
4	CTCF	chr18:14815184-14815219	GM13977	blood:	n/a	n/a
5	CTCF	chr18:14791645-14791680	Lung_OC	lung:	n/a	n/a
6	CTCF	chr18:14802629-14802717	GM20000	blood:	n/a	n/a
7	CTCF	chr18:14792167-14792246	GM13977	blood:	n/a	n/a
8	EP300	chr18:14784022-14784514	T-47D	breast:	n/a	n/a
9	EP300	chr18:14783901-14784744	T-47D	breast:	n/a	n/a
10	EP300	chr18:14784033-14784461	MCF-7	breast:	n/a	n/a
11	EP300	chr18:14798417-14798722	T-47D	breast:	n/a	n/a
12	EP300	chr18:14796773-14797189	T-47D	breast:	n/a	n/a
13	EP300	chr18:14797960-14798337	T-47D	breast:	n/a	n/a
14	EP300	chr18:14809353-14809653	T-47D	breast:	n/a	n/a
15	EP300	chr18:14798390-14798776	T-47D	breast:	n/a	n/a
16	ESR1	chr18:14783973-14784464	T-47D	breast:	n/a	n/a
17	ESR1	chr18:14784031-14784543	T-47D	breast:	n/a	n/a
18	ESR1	chr18:14784070-14784449	T-47D	breast:	n/a	n/a
19	ESR1	chr18:14784014-14784667	T-47D	breast:	n/a	n/a
20	FOS	chr18:14827066-14827423	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr18:14827083-14827425	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr18:14826963-14827427	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr18:14826950-14827427	MCF10A-Er-Src	breast:	n/a	n/a
24	FOXA1	chr18:14798442-14798693	T-47D	breast:	n/a	n/a
25	FOXA1	chr18:14798036-14798240	T-47D	breast:	n/a	n/a
26	FOXA1	chr18:14784021-14784549	T-47D	breast:	n/a	chr18:14784187-14784199 chr18:14784289-14784304
27	FOXA1	chr18:14783972-14784676	T-47D	breast:	n/a	chr18:14784187-14784199 chr18:14784289-14784304
28	FOXA2	chr18:14822873-14823017	A549	lung:	n/a	n/a
29	FOXA2	chr18:14822857-14823231	A549	lung:	n/a	n/a
30	FOXM1	chr18:14784144-14784389	MCF-7	breast:	n/a	n/a
31	GATA3	chr18:14783984-14784530	MCF-7	breast:	n/a	n/a
32	GATA3	chr18:14809385-14809615	T-47D	breast:	n/a	n/a
33	GATA3	chr18:14796551-14796859	T-47D	breast:	n/a	n/a
34	GATA3	chr18:14797953-14798300	T-47D	breast:	n/a	chr18:14798027-14798048
35	GATA3	chr18:14796869-14797420	T-47D	breast:	n/a	n/a
36	GATA3	chr18:14787606-14788014	T-47D	breast:	n/a	n/a
37	GATA3	chr18:14783910-14784605	T-47D	breast:	n/a	n/a
38	GATA3	chr18:14798422-14798789	T-47D	breast:	n/a	n/a
39	GATA3	chr18:14797947-14798310	T-47D	breast:	n/a	chr18:14798027-14798048
40	GATA3	chr18:14798417-14798717	T-47D	breast:	n/a	n/a
41	GATA3	chr18:14783988-14784504	MCF-7	breast:	n/a	n/a
42	GATA3	chr18:14798140-14798921	MCF-7	breast:	n/a	n/a
43	GATA3	chr18:14783899-14784707	T-47D	breast:	n/a	n/a
44	GATA3	chr18:14783999-14784486	MCF-7	breast:	n/a	n/a
45	GATA3	chr18:14796856-14797184	T-47D	breast:	n/a	n/a
46	GATA3	chr18:14783991-14784720	MCF-7	breast:	n/a	n/a
47	GATA3	chr18:14809373-14809616	T-47D	breast:	n/a	n/a
48	GATA3	chr18:14787689-14788064	T-47D	breast:	n/a	n/a
49	HDAC2	chr18:14784139-14784534	MCF-7	breast:	n/a	chr18:14784294-14784303
50	JUND	chr18:14783970-14784688	T-47D	breast:	n/a	chr18:14784380-14784392

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-8	chr18:14808671-14808730	NONHSAT058529
2	lnc-ANKRD30B-8	chr18:14797660-14797688	NONHSAT058529
3	lnc-ANKRD30B-8	chr18:14797781-14797853	NONHSAT058529
4	lnc-POTEC-2	chr18:14816150-14816636	ENSG00000265737.1
5	lnc-POTEC-2	chr18:14825150-14825248	ENSG00000265737.1
6	lnc-ANKRD30B-8	chr18:14808550-14808578	NONHSAT058529

No data

Variant related genes	Relation type
MIR3156-2	TF binding region
ENSG00000265737	TF binding region
GNS	miRNA target sites
GNPTAB	miRNA target sites
GOLGA3	miRNA target sites

Extended variants
information (count: 1617 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1617 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149034770	chr18:14783072-14783073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570331136	chr18:14783086-14783087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539310826	chr18:14783101-14783102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551410421	chr18:14783109-14783110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116422777	chr18:14783152-14783153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533899626	chr18:14783154-14783155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553827132	chr18:14783237-14783238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143058788	chr18:14783271-14783272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561180048	chr18:14783279-14783280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371541539	chr18:14783280-14783281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138767530	chr18:14783320-14783321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190229506	chr18:14783334-14783335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375689365	chr18:14783367-14783368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181722519	chr18:14783541-14783542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564968665	chr18:14783561-14783562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572106318	chr18:14783593-14783594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141748104	chr18:14783599-14783600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115810522	chr18:14783641-14783642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147095904	chr18:14783747-14783748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11874253	chr18:14783755-14783756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10468701	chr18:14783762-14783763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563696134	chr18:14783839-14783840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556737302	chr18:14783885-14783886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112373201	chr18:14783895-14783896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552880804	chr18:14783901-14783902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186680777	chr18:14783953-14783954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192401018	chr18:14783966-14783967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572711785	chr18:14783970-14783971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183960962	chr18:14783972-14783973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188928962	chr18:14784012-14784013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535936078	chr18:14784046-14784047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73427593	chr18:14784054-14784055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558353816	chr18:14784108-14784109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575813087	chr18:14784201-14784202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138530619	chr18:14784218-14784219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144059624	chr18:14784223-14784224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150693597	chr18:14784251-14784252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374442391	chr18:14784259-14784260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138681355	chr18:14784279-14784280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561097864	chr18:14784280-14784281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367794933	chr18:14784319-14784320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574891466	chr18:14784341-14784342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201255823	chr18:14784360-14784361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563934770	chr18:14784362-14784363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374013941	chr18:14784405-14784406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367855859	chr18:14784407-14784408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189761972	chr18:14784423-14784424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552944155	chr18:14784433-14784434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181736144	chr18:14784467-14784468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149361065	chr18:14784468-14784469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14779400-14796600	Weak transcription	Osteobl	bone
2	chr18:14796600-14798200	ZNF genes & repeats	Osteobl	bone
3	chr18:14797000-14797400	Enhancers	Placenta	Placenta
4	chr18:14797400-14798600	Weak transcription	Placenta	Placenta
5	chr18:14798200-14817600	Weak transcription	Osteobl	bone
6	chr18:14798600-14799000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:14798600-14799000	Enhancers	Placenta	Placenta
8	chr18:14799000-14817600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:14817600-14817800	Enhancers	Osteobl	bone
10	chr18:14817800-14818000	Weak transcription	Osteobl	bone
11	chr18:14825200-14825400	Enhancers	Spleen	Spleen
12	chr18:14826400-14828600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:14827000-14827800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:14827000-14828200	Enhancers	Osteobl	bone

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