Variant report

Variant	nsv576816
Chromosome Location	chr18:44546755-44549646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

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	chr18:44546870-44547457	HepG2	liver:	n/a	n/a
3	BHLHE40	chr18:44547816-44548107	HepG2	liver:	n/a	n/a
4	CTCF	chr18:44547080-44547230	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr18:44547459-44547559	GM19239	blood:	n/a	n/a
6	CTCF	chr18:44547080-44547230	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr18:44547060-44547210	GM12867	blood:	n/a	n/a
8	CTCF	chr18:44547080-44547230	HepG2	liver:	n/a	n/a
9	CTCF	chr18:44547060-44547210	WI-38	lung:	n/a	n/a
10	CTCF	chr18:44547060-44547210	GM12868	blood:	n/a	n/a
11	CTCF	chr18:44547080-44547230	HEK293	kidney:	n/a	n/a
12	CTCF	chr18:44547060-44547210	HAc	cerebellar:	n/a	n/a
13	EP300	chr18:44546585-44546933	GM12878	blood:	n/a	n/a
14	FOSL2	chr18:44547814-44548178	HepG2	liver:	n/a	n/a
15	FOSL2	chr18:44546834-44547565	HepG2	liver:	n/a	n/a
16	FOSL2	chr18:44548368-44548606	HepG2	liver:	n/a	n/a
17	FOSL2	chr18:44548745-44549146	HepG2	liver:	n/a	n/a
18	FOSL2	chr18:44549206-44549897	HepG2	liver:	n/a	n/a
19	FOSL2	chr18:44546135-44548214	HepG2	liver:	n/a	n/a
20	FOXA1	chr18:44547117-44547674	HepG2	liver:	n/a	n/a
21	FOXA2	chr18:44546966-44547703	A549	lung:	n/a	n/a
22	GABPA	chr18:44548317-44548689	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr18:44547977-44548189	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr18:44546992-44547119	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr18:44549219-44549510	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr18:44549536-44549773	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr18:44548715-44548905	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr18:44549246-44549557	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr18:44546794-44546948	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr18:44546745-44547767	Hela-S3	cervix:	n/a	n/a
31	HEY1	chr18:44548915-44549174	K562	blood:	n/a	n/a
32	JUND	chr18:44547048-44547823	HepG2	liver:	n/a	n/a
33	JUND	chr18:44547989-44548254	HepG2	liver:	n/a	n/a
34	JUND	chr18:44548877-44549055	HepG2	liver:	n/a	n/a
35	JUND	chr18:44547243-44547363	HepG2	liver:	n/a	n/a
36	JUND	chr18:44547013-44547206	HepG2	liver:	n/a	n/a
37	JUND	chr18:44547949-44548203	HepG2	liver:	n/a	n/a
38	PAX5	chr18:44547041-44547797	GM12878	blood:	n/a	n/a
39	PBX3	chr18:44547226-44547637	GM12878	blood:	n/a	n/a
40	POLR2A	chr18:44547369-44547866	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr18:44547887-44548734	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr18:44547051-44547062	A549	lung:	n/a	n/a
43	POLR2A	chr18:44547313-44547562	A549	lung:	n/a	n/a
44	POLR2A	chr18:44547409-44547417	Gliobla	brain:	n/a	n/a
45	POLR2A	chr18:44548899-44550019	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr18:44547219-44547328	Gliobla	brain:	n/a	n/a
47	POLR2A	chr18:44547084-44547103	Gliobla	brain:	n/a	n/a
48	POLR2A	chr18:44549175-44549380	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr18:44547452-44547610	Gliobla	brain:	n/a	n/a
50	POU2F2	chr18:44547323-44547665	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44547161-44547211	GM06990	blood:	n/a
2	chr18:44547161-44547211	AG09319	gingival:	n/a
3	chr18:44547161-44547211	HepG2	liver:	n/a
4	chr18:44547161-44547211	NHDF-neo	bronchial:	n/a
5	chr18:44547161-44547211	Jurkat	blood:	n/a
6	chr18:44547161-44547211	HCM	heart:	n/a
7	chr18:44547161-44547211	HPAEpiC	pulmonary alveolar:	n/a
8	chr18:44547161-44547211	U87	brain:	n/a
9	chr18:44547161-44547211	LNCaP	prostate:	n/a
10	chr18:44547161-44547211	PrEC	prostate:	n/a
11	chr18:44547161-44547211	GM12892	blood:	n/a
12	chr18:44547161-44547211	GM12878	blood:	n/a
13	chr18:44547161-44547211	AG04450	lung:	fetal
14	chr18:44547161-44547211	PFSK-1	brain:	n/a
15	chr18:44547161-44547211	BE2_C	brain:	n/a
16	chr18:44547161-44547211	CMK	blood:	n/a
17	chr18:44547161-44547211	AG04449	skin:	fetal
18	chr18:44547161-44547211	HRPEpiC	eye:	n/a
19	chr18:44547161-44547211	GM19239	blood:	n/a
20	chr18:44547161-44547211	SKMC	muscle:	n/a
21	chr18:44547161-44547211	NHBE	bronchial:	n/a
22	chr18:44547161-44547211	GM12891	blood:	n/a
23	chr18:44547161-44547211	HCT-116	colon:	n/a
24	chr18:44547161-44547211	Caco-2	colon:	n/a
25	chr18:44547161-44547211	AG09309	skin:	n/a
26	chr18:44547161-44547211	ECC-1	luminal epithelium:	n/a
27	chr18:44547161-44547211	SK-N-SH_RA	brain:	n/a
28	chr18:44547161-44547211	AG10803	skin:	n/a
29	chr18:44547161-44547211	BJ	skin:	n/a
30	chr18:44547161-44547211	IMR90	lung:	fetal
31	chr18:44547161-44547211	RPTEC	kidney:	n/a
32	chr18:44547161-44547211	NB4	blood:	n/a
33	chr18:44547161-44547211	H1-hESC	embryonic stem cell:	embryo
34	chr18:44547161-44547211	HNPCEpiC	eye:	n/a
35	chr18:44547161-44547211	ProgFib	skin:	n/a
36	chr18:44547161-44547211	HIPEpiC	eye:	n/a
37	chr18:44547161-44547211	HAEpiC	amniotic membrane:	n/a
38	chr18:44547161-44547211	HRCEpiC	kidney:	n/a
39	chr18:44547161-44547211	K562	blood:	n/a
40	chr18:44547161-44547211	SK-N-SH	brain:	n/a
41	chr18:44547161-44547211	Hela-S3	cervix:	n/a
42	chr18:44547161-44547211	SAEC	small airway:	n/a
43	chr18:44547161-44547211	NH-A	brain:	n/a
44	chr18:44547161-44547211	NT2-D1	testis:	n/a
45	chr18:44547161-44547211	T-47D	breast:	n/a
46	chr18:44547161-44547211	HCF	heart:	n/a
47	chr18:44547161-44547211	PANC-1	pancreas:	n/a
48	chr18:44547161-44547211	A549	lung:	n/a
49	chr18:44547161-44547211	MCF10A-Er-Src	breast:	n/a
50	chr18:44547161-44547211	HEEpiC	esophagus:	n/a

No data

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

Extended variants
information (count: 41 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534615248	chr18:44546812-44546813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548171974	chr18:44547127-44547128	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147149326	chr18:44547159-44547160	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568490690	chr18:44547198-44547199	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs141662366	chr18:44547360-44547361	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs138619856	chr18:44547377-44547378	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs78197099	chr18:44547402-44547403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71906626	chr18:44547442-44547443	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs150511064	chr18:44547444-44547445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139462600	chr18:44547449-44547450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs71922510	chr18:44547453-44547454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368079834	chr18:44547465-44547466	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs199609595	chr18:44547476-44547477	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs189556067	chr18:44547505-44547506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs67844926	chr18:44547506-44547507	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs72393053	chr18:44547515-44547516	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537131472	chr18:44547588-44547589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557389201	chr18:44547821-44547822	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555520417	chr18:44547983-44547984	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147524555	chr18:44548026-44548027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs149165550	chr18:44548094-44548095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142340842	chr18:44548628-44548629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201366170	chr18:44549012-44549013	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577286550	chr18:44549143-44549144	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539989656	chr18:44549147-44549148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553612378	chr18:44549149-44549150	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573566859	chr18:44549156-44549157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs199619018	chr18:44549170-44549171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542591879	chr18:44549178-44549179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs75431623	chr18:44549194-44549195	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs554245013	chr18:44549203-44549204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574409348	chr18:44549206-44549207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs148562892	chr18:44549214-44549215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201850765	chr18:44549216-44549217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs200094578	chr18:44549232-44549233	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs543067546	chr18:44549238-44549239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112351123	chr18:44549336-44549337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200712716	chr18:44549397-44549398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs56006467	chr18:44549455-44549456	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201849084	chr18:44549539-44549540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs142945452	chr18:44549607-44549608	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:12 , 50 per page) page: 1

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

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