Variant report

Variant	esv1828221
Chromosome Location	chr18:44542584-44549177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr18:44547816-44548107	HepG2	liver:	n/a	n/a
2	BHLHE40	chr18:44546870-44547457	HepG2	liver:	n/a	n/a
3	CTCF	chr18:44545431-44545728	K562	blood:	n/a	n/a
4	CTCF	chr18:44545406-44545810	K562	blood:	n/a	n/a
5	CTCF	chr18:44547060-44547210	GM12867	blood:	n/a	n/a
6	CTCF	chr18:44547459-44547559	GM19239	blood:	n/a	n/a
7	CTCF	chr18:44547080-44547230	HEK293	kidney:	n/a	n/a
8	CTCF	chr18:44547060-44547210	GM12868	blood:	n/a	n/a
9	CTCF	chr18:44546424-44546457	LNCaP	prostate:	n/a	n/a
10	CTCF	chr18:44545700-44545850	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr18:44546374-44546519	Gliobla	brain:	n/a	n/a
12	CTCF	chr18:44547060-44547210	HAc	cerebellar:	n/a	n/a
13	CTCF	chr18:44546337-44546544	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr18:44546371-44546503	A549	lung:	n/a	n/a
15	CTCF	chr18:44545700-44545850	HCFaa	heart:	n/a	n/a
16	CTCF	chr18:44545720-44545870	HepG2	liver:	n/a	n/a
17	CTCF	chr18:44544285-44544576	K562	blood:	n/a	n/a
18	CTCF	chr18:44544960-44545110	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr18:44547080-44547230	HepG2	liver:	n/a	n/a
20	CTCF	chr18:44544960-44545110	HFF-Myc	foreskin:	n/a	n/a
21	CTCF	chr18:44545561-44545716	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:44546361-44546519	HepG2	liver:	n/a	n/a
23	CTCF	chr18:44544278-44544695	K562	blood:	n/a	n/a
24	CTCF	chr18:44547080-44547230	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr18:44547080-44547230	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr18:44545368-44545923	K562	blood:	n/a	n/a
27	CTCF	chr18:44544346-44544559	K562	blood:	n/a	n/a
28	CTCF	chr18:44545599-44545658	LNCaP	prostate:	n/a	n/a
29	CTCF	chr18:44547060-44547210	WI-38	lung:	n/a	n/a
30	CTCF	chr18:44545700-44545850	HEK293	kidney:	n/a	n/a
31	CTCF	chr18:44546352-44546572	K562	blood:	n/a	n/a
32	EP300	chr18:44546585-44546933	GM12878	blood:	n/a	n/a
33	EP300	chr18:44546278-44546561	GM12878	blood:	n/a	chr18:44546519-44546526
34	FOSL2	chr18:44545976-44546720	HepG2	liver:	n/a	n/a
35	FOSL2	chr18:44544867-44545382	HepG2	liver:	n/a	n/a
36	FOSL2	chr18:44548368-44548606	HepG2	liver:	n/a	n/a
37	FOSL2	chr18:44546135-44548214	HepG2	liver:	n/a	n/a
38	FOSL2	chr18:44546834-44547565	HepG2	liver:	n/a	n/a
39	FOSL2	chr18:44544099-44544746	HepG2	liver:	n/a	n/a
40	FOSL2	chr18:44542818-44543219	HepG2	liver:	n/a	n/a
41	FOSL2	chr18:44548745-44549146	HepG2	liver:	n/a	n/a
42	FOSL2	chr18:44543529-44543970	HepG2	liver:	n/a	n/a
43	FOSL2	chr18:44544995-44546021	HepG2	liver:	n/a	n/a
44	FOSL2	chr18:44542441-44542679	HepG2	liver:	n/a	n/a
45	FOSL2	chr18:44547814-44548178	HepG2	liver:	n/a	n/a
46	FOSL2	chr18:44545546-44545870	HepG2	liver:	n/a	n/a
47	FOXA1	chr18:44545706-44546412	HepG2	liver:	n/a	n/a
48	FOXA1	chr18:44547117-44547674	HepG2	liver:	n/a	n/a
49	FOXA2	chr18:44546966-44547703	A549	lung:	n/a	n/a
50	GABPA	chr18:44545549-44545827	Hela-S3	cervix:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44547161-44547211	HL-60	blood:	n/a
2	chr18:44545807-44545857	H1-hESC	embryonic stem cell:	embryo
3	chr18:44547161-44547211	AG04449	skin:	fetal
4	chr18:44547161-44547211	HepG2	liver:	n/a
5	chr18:44544982-44545032	SK-N-SH_RA	brain:	n/a
6	chr18:44545794-44545844	NH-A	brain:	n/a
7	chr18:44545794-44545844	HCT-116	colon:	n/a
8	chr18:44545794-44545844	MCF10A-Er-Src	breast:	n/a
9	chr18:44544982-44545032	MCF-7	breast:	n/a
10	chr18:44543259-44543309	HRCEpiC	kidney:	n/a
11	chr18:44543612-44543662	HEEpiC	esophagus:	n/a
12	chr18:44543612-44543662	HRPEpiC	eye:	n/a
13	chr18:44545807-44545857	NB4	blood:	n/a
14	chr18:44545807-44545857	LNCaP	prostate:	n/a
15	chr18:44545794-44545844	Hepatocyte	liver:	n/a
16	chr18:44543259-44543309	CMK	blood:	n/a
17	chr18:44543612-44543662	CMK	blood:	n/a
18	chr18:44544982-44545032	HepG2	liver:	n/a
19	chr18:44545794-44545844	MCF-7	breast:	n/a
20	chr18:44543612-44543662	K562	blood:	n/a
21	chr18:44544982-44545032	HMEC	breast:	n/a
22	chr18:44545794-44545844	H1-hESC	embryonic stem cell:	embryo
23	chr18:44545794-44545844	Hela-S3	cervix:	n/a
24	chr18:44545794-44545844	HEEpiC	esophagus:	n/a
25	chr18:44547161-44547211	U87	brain:	n/a
26	chr18:44545807-44545857	HAEpiC	amniotic membrane:	n/a
27	chr18:44547161-44547211	HRPEpiC	eye:	n/a
28	chr18:44544982-44545032	GM12892	blood:	n/a
29	chr18:44544982-44545032	GM19239	blood:	n/a
30	chr18:44543612-44543662	T-47D	breast:	n/a
31	chr18:44547161-44547211	PFSK-1	brain:	n/a
32	chr18:44545794-44545844	HUVEC	blood vessel:	n/a
33	chr18:44543612-44543662	HAEpiC	amniotic membrane:	n/a
34	chr18:44543612-44543662	IMR90	lung:	fetal
35	chr18:44545794-44545844	PFSK-1	brain:	n/a
36	chr18:44543612-44543662	HMEC	breast:	n/a
37	chr18:44545807-44545857	RPTEC	kidney:	n/a
38	chr18:44543612-44543662	ProgFib	skin:	n/a
39	chr18:44543612-44543662	HCPEpiC	choroid plexus:	n/a
40	chr18:44543612-44543662	PANC-1	pancreas:	n/a
41	chr18:44544982-44545032	NH-A	brain:	n/a
42	chr18:44543259-44543309	SK-N-SH_RA	brain:	n/a
43	chr18:44545807-44545857	AG09309	skin:	n/a
44	chr18:44545807-44545857	HCM	heart:	n/a
45	chr18:44544982-44545032	AG04450	lung:	fetal
46	chr18:44545807-44545857	GM19239	blood:	n/a
47	chr18:44544982-44545032	NB4	blood:	n/a
48	chr18:44544982-44545032	HIPEpiC	eye:	n/a
49	chr18:44547161-44547211	HIPEpiC	eye:	n/a
50	chr18:44543259-44543309	AG04450	lung:	fetal

No data

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

Extended variants
information (count: 86 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147514430	chr18:44542702-44542703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113029175	chr18:44542827-44542828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202194075	chr18:44542964-44542965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373334809	chr18:44543098-44543099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552088183	chr18:44543187-44543188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565653655	chr18:44543223-44543224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534672207	chr18:44543247-44543248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200023226	chr18:44543248-44543249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554548067	chr18:44543255-44543256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574801900	chr18:44543259-44543260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199608400	chr18:44543267-44543268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117153245	chr18:44543287-44543288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200310822	chr18:44543290-44543291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537595734	chr18:44543322-44543323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557249357	chr18:44543326-44543327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56211975	chr18:44543339-44543340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577397973	chr18:44543467-44543468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145719488	chr18:44543508-44543509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546433733	chr18:44543588-44543589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201375959	chr18:44543597-44543598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111713826	chr18:44543614-44543615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200730207	chr18:44543680-44543681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145227340	chr18:44543823-44543824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146583378	chr18:44544285-44544286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149162889	chr18:44544532-44544533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141278845	chr18:44544793-44544794	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143641868	chr18:44544840-44544841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs150194802	chr18:44544864-44544865	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs560057124	chr18:44544970-44544971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs146781276	chr18:44544996-44544997	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs745715	chr18:44545083-44545084	Enhancers ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138677143	chr18:44545225-44545226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs374040027	chr18:44545481-44545482	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs149443358	chr18:44545541-44545542	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143813254	chr18:44545544-44545545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138500390	chr18:44545545-44545546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs143970968	chr18:44545551-44545552	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs113214992	chr18:44545558-44545559	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs138671648	chr18:44545778-44545779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140253948	chr18:44545785-44545786	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372849505	chr18:44545932-44545933	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201349292	chr18:44545949-44545950	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs60806929	chr18:44545979-44545980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs56268586	chr18:44545981-44545982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs549413013	chr18:44545991-44545992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs55948789	chr18:44545993-44545994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529152387	chr18:44545995-44545996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560979721	chr18:44546031-44546032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs529749005	chr18:44546090-44546091	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112278899	chr18:44546092-44546093	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44538200-44551600	Weak transcription	Gastric	stomach
2	chr18:44544400-44545000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr18:44545000-44545200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr18:44545000-44545200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:44545000-44545200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr18:44545000-44545200	ZNF genes & repeats	Ovary	ovary
7	chr18:44545200-44547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:44545200-44552000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:44546400-44547000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:44547000-44547400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:44547000-44547400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:44547000-44547400	ZNF genes & repeats	Fetal Stomach	stomach
13	chr18:44547200-44547400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:44547200-44547400	ZNF genes & repeats	Fetal Brain Female	brain
15	chr18:44547200-44547400	Bivalent Enhancer	HepG2	liver
16	chr18:44547400-44552000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr18:44547400-44552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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