Variant report

Variant	esv1804988
Chromosome Location	chr10:37449475-37502185
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	chr10:37487403-37487685	A549	lung:	n/a	n/a
2	CEBPB	chr10:37498007-37498168	HepG2	liver:	n/a	chr10:37498022-37498033
3	CEBPB	chr10:37497923-37498188	A549	lung:	n/a	chr10:37498022-37498033
4	CEBPB	chr10:37487363-37487743	A549	lung:	n/a	n/a
5	CEBPB	chr10:37487370-37487673	HepG2	liver:	n/a	n/a
6	CTCF	chr10:37491863-37491898	Lung_OC	lung:	n/a	n/a
7	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
8	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
10	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
11	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
14	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
15	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
16	CTCF	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
17	CTCF	chr10:37491880-37492030	HepG2	liver:	n/a	n/a
18	EBF1	chr10:37497481-37497768	GM12878	blood:	n/a	n/a
19	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
20	EP300	chr10:37497451-37497541	GM12878	blood:	n/a	n/a
21	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
22	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
25	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
26	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
27	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
28	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
29	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
30	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
31	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
32	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
33	GTF2F1	chr10:37496262-37496294	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr10:37497347-37497497	IMR90	lung:	n/a	chr10:37497448-37497463
35	MAFK	chr10:37487282-37487403	HepG2	liver:	n/a	chr10:37487343-37487358
36	MAFK	chr10:37497275-37497619	HepG2	liver:	n/a	chr10:37497448-37497463
37	MAFK	chr10:37497279-37497590	HepG2	liver:	n/a	chr10:37497448-37497463
38	MAFK	chr10:37487268-37487416	HepG2	liver:	n/a	chr10:37487343-37487358
39	NR3C1	chr10:37483454-37483779	A549	lung:	n/a	n/a
40	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
41	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
42	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
43	NR3C1	chr10:37459716-37460283	A549	lung:	n/a	n/a
44	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
45	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
46	NR3C1	chr10:37459709-37460166	A549	lung:	n/a	n/a
47	NR3C1	chr10:37459715-37460235	A549	lung:	n/a	n/a
48	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
49	NR3C1	chr10:37459685-37460255	A549	lung:	n/a	n/a
50	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 1609 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:1609 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575557679	chr10:37449509-37449510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1767326	chr10:37449513-37449514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555748714	chr10:37449544-37449545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568458314	chr10:37449551-37449552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538207511	chr10:37449573-37449574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537489975	chr10:37449585-37449586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557312568	chr10:37449594-37449595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577242201	chr10:37449642-37449643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545998646	chr10:37449708-37449709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111964335	chr10:37449720-37449721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573105235	chr10:37449736-37449737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187945482	chr10:37449751-37449752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562084150	chr10:37449794-37449795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190910233	chr10:37449832-37449833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544222038	chr10:37449880-37449881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577185427	chr10:37449903-37449904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369212657	chr10:37449929-37449930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533007927	chr10:37449953-37449954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546724214	chr10:37449955-37449956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183308126	chr10:37449964-37449965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559575155	chr10:37449969-37449970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188805667	chr10:37449977-37449978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192889124	chr10:37449995-37449996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537773449	chr10:37450000-37450001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151029031	chr10:37450001-37450002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375488949	chr10:37450026-37450027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572949522	chr10:37450042-37450043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185079605	chr10:37450045-37450046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141193181	chr10:37450049-37450050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541572892	chr10:37450053-37450054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187801365	chr10:37450055-37450056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535685081	chr10:37450066-37450067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369107419	chr10:37450083-37450084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561789965	chr10:37450089-37450090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575863929	chr10:37450094-37450095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144166458	chr10:37450100-37450101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146513852	chr10:37450106-37450107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141057228	chr10:37450133-37450134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540323785	chr10:37450139-37450140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1782105	chr10:37450147-37450148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191322472	chr10:37450151-37450152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529080926	chr10:37450161-37450162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549172770	chr10:37450185-37450186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150128636	chr10:37450198-37450199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183509156	chr10:37450209-37450210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551390407	chr10:37450237-37450238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550139727	chr10:37450253-37450254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189411428	chr10:37450256-37450257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539489074	chr10:37450292-37450293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181991093	chr10:37450303-37450304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37448400-37454800	Weak transcription	A549	lung
2	chr10:37454800-37455200	Enhancers	A549	lung
3	chr10:37479600-37490800	Weak transcription	A549	lung
4	chr10:37490800-37491200	Strong transcription	A549	lung
5	chr10:37491200-37507600	Weak transcription	A549	lung

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