Variant report

Variant	esv1848896
Chromosome Location	chr10:37437123-37491280
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	chr10:37487363-37487743	A549	lung:	n/a	n/a
2	CEBPB	chr10:37487370-37487673	HepG2	liver:	n/a	n/a
3	CEBPB	chr10:37487403-37487685	A549	lung:	n/a	n/a
4	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
5	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
6	CTCF	chr10:37442159-37442261	K562	blood:	n/a	n/a
7	CTCF	chr10:37442131-37442208	GM20000	blood:	n/a	n/a
8	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
10	CTCF	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
11	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr10:37438290-37438316	GM13976	blood:	n/a	n/a
13	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
15	CTCF	chr10:37446718-37446806	Lung_OC	lung:	n/a	n/a
16	CTCF	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
18	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
19	E2F4	chr10:37446270-37446422	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
21	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
22	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
25	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
26	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
27	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
28	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
29	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
30	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
31	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
32	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
33	MAFF	chr10:37447788-37447979	HepG2	liver:	n/a	n/a
34	MAFK	chr10:37447778-37447999	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
35	MAFK	chr10:37439661-37439715	HepG2	liver:	n/a	n/a
36	MAFK	chr10:37487268-37487416	HepG2	liver:	n/a	chr10:37487343-37487358
37	MAFK	chr10:37447782-37448058	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
38	MAFK	chr10:37487282-37487403	HepG2	liver:	n/a	chr10:37487343-37487358
39	MAFK	chr10:37447832-37448011	IMR90	lung:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
40	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
41	NR3C1	chr10:37448659-37449129	A549	lung:	n/a	chr10:37448958-37448975
42	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
43	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
44	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
45	NR3C1	chr10:37483285-37483776	A549	lung:	n/a	n/a
46	NR3C1	chr10:37448671-37449107	A549	lung:	n/a	chr10:37448958-37448975
47	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
48	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
49	NR3C1	chr10:37448654-37449122	A549	lung:	n/a	chr10:37448958-37448975
50	NR3C1	chr10:37459716-37460283	A549	lung:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 1623 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1623 , 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	rs138212727	chr10:37437130-37437131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527879299	chr10:37437169-37437170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533936884	chr10:37437177-37437178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141769116	chr10:37437186-37437187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189345529	chr10:37437223-37437224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536135019	chr10:37437227-37437228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372229858	chr10:37437287-37437288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565687010	chr10:37437288-37437289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573661884	chr10:37437331-37437332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542284241	chr10:37437389-37437390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180835424	chr10:37437395-37437396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557788383	chr10:37437404-37437405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11011049	chr10:37437405-37437406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186280036	chr10:37437406-37437407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189157755	chr10:37437411-37437412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556120005	chr10:37437412-37437413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542940790	chr10:37437424-37437425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374983960	chr10:37437425-37437426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150146361	chr10:37437465-37437466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371336346	chr10:37437515-37437516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551408338	chr10:37437559-37437560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181583537	chr10:37437573-37437574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527404982	chr10:37437628-37437629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547543314	chr10:37437638-37437639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567333830	chr10:37437672-37437673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537521142	chr10:37437721-37437722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186631580	chr10:37437737-37437738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576704081	chr10:37437783-37437784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2891578	chr10:37437796-37437797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191741427	chr10:37437819-37437820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569942120	chr10:37437865-37437866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537812793	chr10:37437954-37437955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557751421	chr10:37437976-37437977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571333014	chr10:37438007-37438008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183134281	chr10:37438078-37438079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567678435	chr10:37438083-37438084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186486933	chr10:37438097-37438098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574146977	chr10:37438104-37438105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543211278	chr10:37438117-37438118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190030891	chr10:37438128-37438129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545723915	chr10:37438145-37438146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576826529	chr10:37438180-37438181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544994936	chr10:37438195-37438196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117525070	chr10:37438205-37438206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527318864	chr10:37438229-37438230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370222883	chr10:37438276-37438277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541118856	chr10:37438280-37438281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561085248	chr10:37438281-37438282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138606756	chr10:37438288-37438289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549963234	chr10:37438326-37438327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37436000-37439000	Weak transcription	A549	lung
2	chr10:37439000-37439400	Active TSS	A549	lung
3	chr10:37439400-37441200	Weak transcription	A549	lung
4	chr10:37441200-37441400	Enhancers	A549	lung
5	chr10:37446400-37447200	Weak transcription	A549	lung
6	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
7	chr10:37448400-37454800	Weak transcription	A549	lung
8	chr10:37454800-37455200	Enhancers	A549	lung
9	chr10:37479600-37490800	Weak transcription	A549	lung
10	chr10:37490800-37491200	Strong transcription	A549	lung
11	chr10:37491200-37507600	Weak transcription	A549	lung

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