Variant report

Variant	esv3487236
Chromosome Location	chr18:44551079-44555094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr18:44552793-44553372	HepG2	liver:	n/a	n/a
2	BHLHE40	chr18:44553731-44554022	HepG2	liver:	n/a	n/a
3	CTCF	chr18:44551620-44551770	AG10803	skin:	n/a	n/a
4	CTCF	chr18:44551620-44551770	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr18:44552040-44552190	AG04449	skin:	n/a	n/a
6	CTCF	chr18:44553344-44553385	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr18:44552060-44552210	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr18:44551620-44551770	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr18:44551208-44551848	K562	blood:	n/a	n/a
10	CTCF	chr18:44554020-44554170	HA-sp	spinal cord:	n/a	n/a
11	CTCF	chr18:44552256-44552456	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr18:44551498-44551626	LNCaP	prostate:	n/a	n/a
13	CTCF	chr18:44551550-44551578	LNCaP	prostate:	n/a	n/a
14	CTCF	chr18:44552363-44552374	A549	lung:	n/a	n/a
15	CTCF	chr18:44554040-44554190	AG04450	lung:	n/a	n/a
16	CTCF	chr18:44553366-44553476	GM19239	blood:	n/a	n/a
17	CTCF	chr18:44552060-44552210	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr18:44554040-44554190	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr18:44551620-44551770	HepG2	liver:	n/a	n/a
20	CTCF	chr18:44551296-44551735	K562	blood:	n/a	n/a
21	CTCF	chr18:44552308-44552416	Gliobla	brain:	n/a	n/a
22	CTCF	chr18:44554460-44554610	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr18:44552060-44552210	HepG2	liver:	n/a	n/a
24	CTCF	chr18:44552284-44552457	HepG2	liver:	n/a	n/a
25	CTCF	chr18:44552060-44552210	HFF-Myc	foreskin:	n/a	n/a
26	CTCF	chr18:44551389-44551718	K562	blood:	n/a	n/a
27	EP300	chr18:44551484-44551726	GM12878	blood:	n/a	n/a
28	EP300	chr18:44552201-44552484	GM12878	blood:	n/a	chr18:44552442-44552449
29	EP300	chr18:44552508-44552856	GM12878	blood:	n/a	n/a
30	FOSL2	chr18:44553729-44554093	HepG2	liver:	n/a	n/a
31	FOSL2	chr18:44551899-44552643	HepG2	liver:	n/a	n/a
32	FOSL2	chr18:44552058-44554112	HepG2	liver:	n/a	n/a
33	FOSL2	chr18:44554660-44555061	HepG2	liver:	n/a	n/a
34	FOSL2	chr18:44552757-44553068	HepG2	liver:	n/a	n/a
35	FOSL2	chr18:44553099-44553480	HepG2	liver:	n/a	n/a
36	FOSL2	chr18:44550922-44551944	HepG2	liver:	n/a	n/a
37	FOSL2	chr18:44550830-44551309	HepG2	liver:	n/a	n/a
38	FOXA1	chr18:44553040-44553589	HepG2	liver:	n/a	n/a
39	FOXA1	chr18:44551631-44552335	HepG2	liver:	n/a	n/a
40	FOXA2	chr18:44553055-44553618	A549	lung:	n/a	n/a
41	GABPA	chr18:44554232-44554422	Hela-S3	cervix:	n/a	n/a
42	GABPA	chr18:44551733-44551854	Hela-S3	cervix:	n/a	n/a
43	GABPA	chr18:44551474-44551820	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr18:44552668-44553682	Hela-S3	cervix:	n/a	n/a
45	GABPA	chr18:44552717-44552871	Hela-S3	cervix:	n/a	n/a
46	GABPA	chr18:44552011-44552384	Hela-S3	cervix:	n/a	n/a
47	GABPA	chr18:44550930-44551422	Hela-S3	cervix:	n/a	n/a
48	GABPA	chr18:44553892-44554104	Hela-S3	cervix:	n/a	n/a
49	GABPA	chr18:44551455-44551618	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr18:44551156-44551420	Hela-S3	cervix:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44553084-44553134	ovcar-3	ovarian:	n/a
2	chr18:44553084-44553134	ovcar-3	ovarian:	n/a
3	chr18:44551732-44551782	HCPEpiC	choroid plexus:	n/a
4	chr18:44551719-44551769	SK-N-SH	brain:	n/a
5	chr18:44551732-44551782	HRPEpiC	eye:	n/a
6	chr18:44551719-44551769	T-47D	breast:	n/a
7	chr18:44553084-44553134	T-47D	breast:	n/a
8	chr18:44551732-44551782	BJ	skin:	n/a
9	chr18:44553084-44553134	AG09319	gingival:	n/a
10	chr18:44553084-44553134	AG10803	skin:	n/a
11	chr18:44551732-44551782	ovcar-3	ovarian:	n/a
12	chr18:44551719-44551769	HRCEpiC	kidney:	n/a
13	chr18:44551719-44551769	CMK	blood:	n/a
14	chr18:44553084-44553134	H1-hESC	embryonic stem cell:	embryo
15	chr18:44551732-44551782	HepG2	liver:	n/a
16	chr18:44551732-44551782	NT2-D1	testis:	n/a
17	chr18:44553084-44553134	HRCEpiC	kidney:	n/a
18	chr18:44551732-44551782	LNCaP	prostate:	n/a
19	chr18:44551732-44551782	CMK	blood:	n/a
20	chr18:44553084-44553134	RPTEC	kidney:	n/a
21	chr18:44553084-44553134	SAEC	small airway:	n/a
22	chr18:44553084-44553134	HEEpiC	esophagus:	n/a
23	chr18:44553084-44553134	GM12878	blood:	n/a
24	chr18:44553084-44553134	HCT-116	colon:	n/a
25	chr18:44551719-44551769	NH-A	brain:	n/a
26	chr18:44551719-44551769	AG09309	skin:	n/a
27	chr18:44551732-44551782	PrEC	prostate:	n/a
28	chr18:44551732-44551782	ECC-1	luminal epithelium:	n/a
29	chr18:44551732-44551782	NHDF-neo	bronchial:	n/a
30	chr18:44553084-44553134	Hepatocyte	liver:	n/a
31	chr18:44551719-44551769	HUVEC	blood vessel:	n/a
32	chr18:44553084-44553134	GM12891	blood:	n/a
33	chr18:44551719-44551769	GM12892	blood:	n/a
34	chr18:44551719-44551769	HIPEpiC	eye:	n/a
35	chr18:44553084-44553134	HL-60	blood:	n/a
36	chr18:44551719-44551769	AG10803	skin:	n/a
37	chr18:44551719-44551769	HepG2	liver:	n/a
38	chr18:44551719-44551769	PrEC	prostate:	n/a
39	chr18:44551719-44551769	HAEpiC	amniotic membrane:	n/a
40	chr18:44551732-44551782	HEEpiC	esophagus:	n/a
41	chr18:44553084-44553134	SK-N-MC	brain:	n/a
42	chr18:44551719-44551769	IMR90	lung:	fetal
43	chr18:44551732-44551782	HCT-116	colon:	n/a
44	chr18:44551732-44551782	HL-60	blood:	n/a
45	chr18:44551719-44551769	HRE	kidney:	n/a
46	chr18:44553084-44553134	HRPEpiC	eye:	n/a
47	chr18:44551719-44551769	HEK293	kidney:	embryo
48	chr18:44553084-44553134	HUVEC	blood vessel:	n/a
49	chr18:44551732-44551782	HAEpiC	amniotic membrane:	n/a
50	chr18:44553084-44553134	HepG2	liver:	n/a

No data

Variant related genes	Relation type
TCEB3CL	TF binding region
TCEB3CL	CpG island

Extended variants
information (count: 62 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150666856	chr18:44551344-44551345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563369682	chr18:44551399-44551400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs139808744	chr18:44551433-44551434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372023027	chr18:44551468-44551469	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs370147805	chr18:44551469-44551470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372435314	chr18:44551476-44551477	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs57138556	chr18:44551477-44551478	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371899372	chr18:44551478-44551479	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs62095396	chr18:44551481-44551482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs140437548	chr18:44551629-44551630	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs146793049	chr18:44551710-44551711	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs373263125	chr18:44551718-44551719	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550781818	chr18:44551770-44551771	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs139462441	chr18:44551774-44551775	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs139532054	chr18:44551873-44551874	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375095195	chr18:44551874-44551875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138564494	chr18:44551881-44551882	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs142604536	chr18:44551893-44551894	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs146782275	chr18:44551916-44551917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs573062788	chr18:44551918-44551919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143492223	chr18:44551954-44551955	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528369375	chr18:44552013-44552014	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548109979	chr18:44552153-44552154	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568277263	chr18:44552246-44552247	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112143049	chr18:44552364-44552365	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs149496990	chr18:44552427-44552428	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs530904129	chr18:44552444-44552445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550700161	chr18:44552445-44552446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145666122	chr18:44552449-44552450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539977443	chr18:44552475-44552476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs143948116	chr18:44552484-44552485	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs112334011	chr18:44552568-44552569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564988487	chr18:44552580-44552581	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs143565528	chr18:44552856-44552857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs3017165	chr18:44553082-44553083	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs142083065	chr18:44553245-44553246	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs148203353	chr18:44553265-44553266	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs145843449	chr18:44553300-44553301	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145061583	chr18:44553365-44553366	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs141161610	chr18:44553376-44553377	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544614376	chr18:44553380-44553381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375300564	chr18:44553381-44553382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553601802	chr18:44553382-44553383	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113200308	chr18:44553390-44553391	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs567097134	chr18:44553736-44553737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs536141456	chr18:44553810-44553811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146172129	chr18:44553818-44553819	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142675854	chr18:44554351-44554352	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs58377071	chr18:44554472-44554473	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555991155	chr18:44554513-44554514	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	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
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44538200-44551600	Weak transcription	Gastric	stomach
2	chr18:44545200-44552000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:44547400-44552000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:44547400-44552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:44550200-44556600	Weak transcription	Fetal Lung	lung
6	chr18:44551600-44551800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:44551600-44551800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:44551800-44553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:44551800-44553000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:44552000-44552200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:44552000-44552200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:44552000-44552400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr18:44552000-44552400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:44552000-44552400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:44552200-44552400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:44552400-44555000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr18:44553000-44553200	Enhancers	Right Ventricle	heart
18	chr18:44553000-44553600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:44553000-44553600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
21	chr18:44553600-44554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:44553600-44555000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:44554000-44555400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:44554000-44555400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
25	chr18:44554600-44555400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr18:44555000-44555400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr18:44555000-44555400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr18:44555000-44555400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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