Variant report

Variant	nsv576817
Chromosome Location	chr18:44548026-44550688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	CTCF	chr18:44550236-44550581	K562	blood:	n/a	n/a
4	CTCF	chr18:44550232-44550622	K562	blood:	n/a	n/a
5	FOSL2	chr18:44547814-44548178	HepG2	liver:	n/a	n/a
6	FOSL2	chr18:44549206-44549897	HepG2	liver:	n/a	n/a
7	FOSL2	chr18:44550026-44550673	HepG2	liver:	n/a	n/a
8	FOSL2	chr18:44548745-44549146	HepG2	liver:	n/a	n/a
9	FOSL2	chr18:44548368-44548606	HepG2	liver:	n/a	n/a
10	FOSL2	chr18:44546135-44548214	HepG2	liver:	n/a	n/a
11	FOXP2	chr18:44550247-44550485	PFSK-1	brain:	n/a	n/a
12	GABPA	chr18:44549536-44549773	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr18:44550288-44550836	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr18:44549219-44549510	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr18:44549246-44549557	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr18:44550413-44550585	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr18:44549779-44550193	Hela-S3	cervix:	n/a	n/a
18	GABPA	chr18:44550057-44550302	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr18:44548317-44548689	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr18:44547977-44548189	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr18:44548715-44548905	Hela-S3	cervix:	n/a	n/a
22	HEY1	chr18:44548915-44549174	K562	blood:	n/a	n/a
23	JUND	chr18:44547989-44548254	HepG2	liver:	n/a	n/a
24	JUND	chr18:44548877-44549055	HepG2	liver:	n/a	n/a
25	JUND	chr18:44547949-44548203	HepG2	liver:	n/a	n/a
26	PAX5	chr18:44549974-44550336	GM12878	blood:	n/a	n/a
27	PAX5	chr18:44550678-44550907	GM12878	blood:	n/a	n/a
28	POLR2A	chr18:44549175-44549380	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr18:44548899-44550019	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr18:44550443-44550627	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr18:44550197-44551220	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr18:44547887-44548734	H1-hESC	embryonic stem cell:	n/a	n/a
33	POU2F2	chr18:44547888-44548568	GM12878	blood:	n/a	n/a
34	POU2F2	chr18:44546747-44548271	GM12891	blood:	n/a	n/a
35	REST	chr18:44549113-44550153	PANC-1	pancreas:	n/a	n/a
36	REST	chr18:44550156-44550833	PANC-1	pancreas:	n/a	chr18:44550339-44550348 chr18:44550585-44550605 chr18:44550384-44550397 chr18:44550319-44550328
37	RXRA	chr18:44550137-44551147	HepG2	liver:	n/a	n/a
38	RXRA	chr18:44548545-44549711	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr18:44548548-44548651	HepG2	liver:	n/a	n/a
40	SIX5	chr18:44549923-44550181	K562	blood:	n/a	n/a
41	SIX5	chr18:44550657-44551138	K562	blood:	n/a	n/a
42	SRF	chr18:44549968-44550813	GM12878	blood:	n/a	chr18:44550624-44550634 chr18:44550604-44550622 chr18:44550606-44550621
43	TAF1	chr18:44550684-44550898	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr18:44548876-44549040	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr18:44548410-44550855	HepG2	liver:	n/a	n/a
46	TCF12	chr18:44549223-44549408	GM12878	blood:	n/a	n/a
47	TCF3	chr18:44550125-44550598	GM12878	blood:	n/a	n/a
48	TCF3	chr18:44548416-44548831	GM12878	blood:	n/a	n/a
49	USF1	chr18:44548464-44548602	HepG2	liver:	n/a	n/a
50	USF1	chr18:44548049-44548218	HepG2	liver:	n/a	n/a

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

Extended variants
information (count: 23 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147524555	chr18:44548026-44548027	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs149165550	chr18:44548094-44548095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142340842	chr18:44548628-44548629	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201366170	chr18:44549012-44549013	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577286550	chr18:44549143-44549144	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs539989656	chr18:44549147-44549148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553612378	chr18:44549149-44549150	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573566859	chr18:44549156-44549157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199619018	chr18:44549170-44549171	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542591879	chr18:44549178-44549179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs75431623	chr18:44549194-44549195	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554245013	chr18:44549203-44549204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574409348	chr18:44549206-44549207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs148562892	chr18:44549214-44549215	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201850765	chr18:44549216-44549217	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200094578	chr18:44549232-44549233	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543067546	chr18:44549238-44549239	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs112351123	chr18:44549336-44549337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200712716	chr18:44549397-44549398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs56006467	chr18:44549455-44549456	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201849084	chr18:44549539-44549540	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs142945452	chr18:44549607-44549608	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs151258432	chr18:44549653-44549654	Weak transcription	n/a	n/a	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:5 , 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

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