Variant report

Variant	esv17377
Chromosome Location	chr18:44545086-44552701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:255)
CpG islands
(count:308)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr18:44549353-44549656	GM12878	blood:	n/a	n/a
2	BHLHE40	chr18:44547816-44548107	HepG2	liver:	n/a	n/a
3	BHLHE40	chr18:44546870-44547457	HepG2	liver:	n/a	n/a
4	CTCF	chr18:44551389-44551718	K562	blood:	n/a	n/a
5	CTCF	chr18:44546337-44546544	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr18:44551620-44551770	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr18:44552060-44552210	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr18:44547080-44547230	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr18:44552308-44552416	Gliobla	brain:	n/a	n/a
10	CTCF	chr18:44544960-44545110	HFF-Myc	foreskin:	n/a	n/a
11	CTCF	chr18:44545700-44545850	HCFaa	heart:	n/a	n/a
12	CTCF	chr18:44552284-44552457	HepG2	liver:	n/a	n/a
13	CTCF	chr18:44551498-44551626	LNCaP	prostate:	n/a	n/a
14	CTCF	chr18:44545368-44545923	K562	blood:	n/a	n/a
15	CTCF	chr18:44547080-44547230	HEK293	kidney:	n/a	n/a
16	CTCF	chr18:44552060-44552210	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr18:44546371-44546503	A549	lung:	n/a	n/a
18	CTCF	chr18:44551620-44551770	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr18:44552256-44552456	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr18:44552060-44552210	HepG2	liver:	n/a	n/a
21	CTCF	chr18:44546424-44546457	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:44551296-44551735	K562	blood:	n/a	n/a
23	CTCF	chr18:44545561-44545716	LNCaP	prostate:	n/a	n/a
24	CTCF	chr18:44547080-44547230	HepG2	liver:	n/a	n/a
25	CTCF	chr18:44544960-44545110	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr18:44545431-44545728	K562	blood:	n/a	n/a
27	CTCF	chr18:44552040-44552190	AG04449	skin:	n/a	n/a
28	CTCF	chr18:44545700-44545850	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr18:44550232-44550622	K562	blood:	n/a	n/a
30	CTCF	chr18:44551620-44551770	AG10803	skin:	n/a	n/a
31	CTCF	chr18:44546374-44546519	Gliobla	brain:	n/a	n/a
32	CTCF	chr18:44546352-44546572	K562	blood:	n/a	n/a
33	CTCF	chr18:44547060-44547210	HAc	cerebellar:	n/a	n/a
34	CTCF	chr18:44547080-44547230	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr18:44546361-44546519	HepG2	liver:	n/a	n/a
36	CTCF	chr18:44547459-44547559	GM19239	blood:	n/a	n/a
37	CTCF	chr18:44547060-44547210	GM12868	blood:	n/a	n/a
38	CTCF	chr18:44551550-44551578	LNCaP	prostate:	n/a	n/a
39	CTCF	chr18:44545599-44545658	LNCaP	prostate:	n/a	n/a
40	CTCF	chr18:44545720-44545870	HepG2	liver:	n/a	n/a
41	CTCF	chr18:44545406-44545810	K562	blood:	n/a	n/a
42	CTCF	chr18:44545700-44545850	HEK293	kidney:	n/a	n/a
43	CTCF	chr18:44552060-44552210	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr18:44551208-44551848	K562	blood:	n/a	n/a
45	CTCF	chr18:44550236-44550581	K562	blood:	n/a	n/a
46	CTCF	chr18:44547060-44547210	GM12867	blood:	n/a	n/a
47	CTCF	chr18:44551620-44551770	HepG2	liver:	n/a	n/a
48	CTCF	chr18:44547060-44547210	WI-38	lung:	n/a	n/a
49	CTCF	chr18:44552363-44552374	A549	lung:	n/a	n/a
50	EP300	chr18:44546278-44546561	GM12878	blood:	n/a	chr18:44546519-44546526

(count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44551732-44551782	PANC-1	pancreas:	n/a
2	chr18:44545807-44545857	SAEC	small airway:	n/a
3	chr18:44547161-44547211	T-47D	breast:	n/a
4	chr18:44551732-44551782	PANC-1	pancreas:	n/a
5	chr18:44545807-44545857	SAEC	small airway:	n/a
6	chr18:44547161-44547211	T-47D	breast:	n/a
7	chr18:44545794-44545844	Jurkat	blood:	n/a
8	chr18:44551732-44551782	Hepatocyte	liver:	n/a
9	chr18:44551732-44551782	NB4	blood:	n/a
10	chr18:44545794-44545844	Hepatocyte	liver:	n/a
11	chr18:44551732-44551782	HCT-116	colon:	n/a
12	chr18:44545807-44545857	PrEC	prostate:	n/a
13	chr18:44545807-44545857	PANC-1	pancreas:	n/a
14	chr18:44545807-44545857	SK-N-SH	brain:	n/a
15	chr18:44551732-44551782	Caco-2	colon:	n/a
16	chr18:44551732-44551782	RPTEC	kidney:	n/a
17	chr18:44545794-44545844	A549	lung:	n/a
18	chr18:44545807-44545857	HIPEpiC	eye:	n/a
19	chr18:44551719-44551769	SK-N-MC	brain:	n/a
20	chr18:44551732-44551782	HAEpiC	amniotic membrane:	n/a
21	chr18:44545794-44545844	HEK293	kidney:	embryo
22	chr18:44545794-44545844	BE2_C	brain:	n/a
23	chr18:44545807-44545857	ovcar-3	ovarian:	n/a
24	chr18:44545807-44545857	HRCEpiC	kidney:	n/a
25	chr18:44547161-44547211	HL-60	blood:	n/a
26	chr18:44545807-44545857	HCPEpiC	choroid plexus:	n/a
27	chr18:44551732-44551782	GM12892	blood:	n/a
28	chr18:44545794-44545844	SAEC	small airway:	n/a
29	chr18:44545794-44545844	MCF10A-Er-Src	breast:	n/a
30	chr18:44551732-44551782	HRE	kidney:	n/a
31	chr18:44545807-44545857	Hela-S3	cervix:	n/a
32	chr18:44545807-44545857	RPTEC	kidney:	n/a
33	chr18:44551719-44551769	HEEpiC	esophagus:	n/a
34	chr18:44551732-44551782	ovcar-3	ovarian:	n/a
35	chr18:44551732-44551782	MCF-7	breast:	n/a
36	chr18:44545807-44545857	ECC-1	luminal epithelium:	n/a
37	chr18:44545794-44545844	H1-hESC	embryonic stem cell:	embryo
38	chr18:44547161-44547211	AG04450	lung:	fetal
39	chr18:44545794-44545844	HCPEpiC	choroid plexus:	n/a
40	chr18:44551732-44551782	GM06990	blood:	n/a
41	chr18:44551719-44551769	ECC-1	luminal epithelium:	n/a
42	chr18:44551732-44551782	HRPEpiC	eye:	n/a
43	chr18:44551719-44551769	SK-N-SH	brain:	n/a
44	chr18:44551732-44551782	AG04449	skin:	fetal
45	chr18:44551732-44551782	AG10803	skin:	n/a
46	chr18:44545807-44545857	HNPCEpiC	eye:	n/a
47	chr18:44551732-44551782	Jurkat	blood:	n/a
48	chr18:44551719-44551769	SKMC	muscle:	n/a
49	chr18:44551719-44551769	HCF	heart:	n/a
50	chr18:44547161-44547211	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
TCEB3CL2	TF binding region
TCEB3CL	TF binding region
TCEB3CL2	CpG island
TCEB3CL	CpG island

Extended variants
information (count: 102 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138677143	chr18:44545225-44545226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374040027	chr18:44545481-44545482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149443358	chr18:44545541-44545542	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143813254	chr18:44545544-44545545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs138500390	chr18:44545545-44545546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143970968	chr18:44545551-44545552	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113214992	chr18:44545558-44545559	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138671648	chr18:44545778-44545779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140253948	chr18:44545785-44545786	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372849505	chr18:44545932-44545933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201349292	chr18:44545949-44545950	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs60806929	chr18:44545979-44545980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs56268586	chr18:44545981-44545982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549413013	chr18:44545991-44545992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs55948789	chr18:44545993-44545994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529152387	chr18:44545995-44545996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs560979721	chr18:44546031-44546032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs529749005	chr18:44546090-44546091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs112278899	chr18:44546092-44546093	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs549877127	chr18:44546189-44546190	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369886283	chr18:44546202-44546203	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563322467	chr18:44546210-44546211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs532301467	chr18:44546211-44546212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150347153	chr18:44546214-44546215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs565594498	chr18:44546370-44546371	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs138006330	chr18:44546526-44546527	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs149478243	chr18:44546645-44546646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534615248	chr18:44546812-44546813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548171974	chr18:44547127-44547128	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs147149326	chr18:44547159-44547160	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568490690	chr18:44547198-44547199	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs141662366	chr18:44547360-44547361	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs138619856	chr18:44547377-44547378	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs78197099	chr18:44547402-44547403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs71906626	chr18:44547442-44547443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150511064	chr18:44547444-44547445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs139462600	chr18:44547449-44547450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs71922510	chr18:44547453-44547454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368079834	chr18:44547465-44547466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199609595	chr18:44547476-44547477	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189556067	chr18:44547505-44547506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs67844926	chr18:44547506-44547507	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs72393053	chr18:44547515-44547516	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs537131472	chr18:44547588-44547589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557389201	chr18:44547821-44547822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs555520417	chr18:44547983-44547984	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147524555	chr18:44548026-44548027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149165550	chr18:44548094-44548095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs142340842	chr18:44548628-44548629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201366170	chr18:44549012-44549013	Weak transcription	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	chr18:44545000-44545200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr18:44545000-44545200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:44545000-44545200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:44545000-44545200	ZNF genes & repeats	Ovary	ovary
6	chr18:44545200-44547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:44545200-44552000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr18:44546400-44547000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:44547000-44547400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:44547000-44547400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:44547000-44547400	ZNF genes & repeats	Fetal Stomach	stomach
12	chr18:44547200-44547400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:44547200-44547400	ZNF genes & repeats	Fetal Brain Female	brain
14	chr18:44547200-44547400	Bivalent Enhancer	HepG2	liver
15	chr18:44547400-44552000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:44547400-44552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:44550200-44556600	Weak transcription	Fetal Lung	lung
18	chr18:44551600-44551800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:44551600-44551800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:44551800-44553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:44551800-44553000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:44552000-44552200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:44552000-44552200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:44552000-44552400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr18:44552000-44552400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr18:44552000-44552400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:44552200-44552400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr18:44552400-44555000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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