Variant report

Variant	esv3324203
Chromosome Location	chr3:21184173-21186721
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	CEBPB	chr3:21183893-21184180	IMR90	lung:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
2	CEBPB	chr3:21183910-21184219	K562	blood:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
3	CEBPB	chr3:21183929-21184180	HepG2	liver:	n/a	chr3:21184052-21184063 chr3:21184051-21184064
4	CTCF	chr3:21184551-21184600	MCF-7	breast:	n/a	n/a
5	CTCF	chr3:21184557-21184615	MCF-7	breast:	n/a	n/a
6	MYC	chr3:21184515-21184622	MCF-7	breast:	n/a	n/a
7	MYC	chr3:21184589-21184616	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:21185757-21185838	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:21184564-21184596	A549	lung:	n/a	n/a
10	POLR2A	chr3:21184478-21184724	MCF-7	breast:	n/a	n/a
11	POLR2A	chr3:21184470-21184650	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:21186073-21186227	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr3:21184261-21184270	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21175037..21177371-chr3:21182384..21184259,2	K562	blood:

Variant related genes	Relation type
ENSG00000221659	TF binding region

Extended variants
information (count: 173 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115421469	chr3:21184181-21184182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs150842787	chr3:21184182-21184183	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551684420	chr3:21184189-21184190	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186184458	chr3:21184226-21184227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192457602	chr3:21184231-21184232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555024528	chr3:21184245-21184246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573784053	chr3:21184250-21184251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537279249	chr3:21184262-21184263	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556812031	chr3:21184264-21184265	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs182569371	chr3:21184284-21184285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185905405	chr3:21184290-21184291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190822603	chr3:21184310-21184311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557261262	chr3:21184311-21184312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149596502	chr3:21184380-21184381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60280783	chr3:21184413-21184414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113769522	chr3:21184435-21184436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182555699	chr3:21184442-21184443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527986930	chr3:21184456-21184457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144337619	chr3:21184457-21184458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567746835	chr3:21184486-21184487	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs386659150	chr3:21184487-21184488	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565020210	chr3:21184489-21184490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs58212710	chr3:21184496-21184497	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs533203729	chr3:21184524-21184525	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs34556437	chr3:21184550-21184551	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566769992	chr3:21184556-21184557	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373506876	chr3:21184577-21184578	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527548468	chr3:21184589-21184590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs144886229	chr3:21184627-21184628	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs567237188	chr3:21184630-21184631	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs35819593	chr3:21184639-21184640	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374843001	chr3:21184644-21184645	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs34547849	chr3:21184647-21184648	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112027196	chr3:21184735-21184736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539230197	chr3:21184737-21184738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554025599	chr3:21184745-21184746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35338631	chr3:21184753-21184754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142069315	chr3:21184772-21184773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187253653	chr3:21184773-21184774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576052995	chr3:21184794-21184795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192073305	chr3:21184824-21184825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140447987	chr3:21184872-21184873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183176941	chr3:21184893-21184894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151152256	chr3:21184895-21184896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71613652	chr3:21184897-21184898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193206296	chr3:21184899-21184900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113023491	chr3:21184906-21184907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565081042	chr3:21184912-21184913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113774876	chr3:21184918-21184919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185585527	chr3:21184919-21184920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21180000-21184600	Weak transcription	Pancreas	Pancrea
2	chr3:21182400-21184600	Weak transcription	Aorta	Aorta
3	chr3:21184600-21184800	Enhancers	Aorta	Aorta
4	chr3:21184600-21184800	Enhancers	Pancreas	Pancrea
5	chr3:21184800-21185200	Weak transcription	Pancreas	Pancrea
6	chr3:21184800-21186600	Weak transcription	Aorta	Aorta

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