Variant report

Variant	esv1843950
Chromosome Location	chr10:37450455-37484107
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	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
2	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
3	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
4	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
5	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
8	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
9	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
10	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
11	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
12	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
13	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
14	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
15	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
16	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
17	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
18	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
19	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
20	NR3C1	chr10:37471535-37472094	A549	lung:	n/a	chr10:37471855-37471872
21	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
22	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
23	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
24	NR3C1	chr10:37483309-37483816	A549	lung:	n/a	n/a
25	NR3C1	chr10:37483454-37483779	A549	lung:	n/a	n/a
26	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
27	NR3C1	chr10:37483285-37483776	A549	lung:	n/a	n/a
28	NR3C1	chr10:37459709-37460166	A549	lung:	n/a	n/a
29	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
30	NR3C1	chr10:37459715-37460235	A549	lung:	n/a	n/a
31	NR3C1	chr10:37471501-37472116	A549	lung:	n/a	chr10:37471855-37471872
32	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
33	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a
34	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
35	NR3C1	chr10:37459716-37460283	A549	lung:	n/a	n/a
36	NR3C1	chr10:37459685-37460255	A549	lung:	n/a	n/a
37	NR3C1	chr10:37471507-37472170	A549	lung:	n/a	chr10:37471855-37471872
38	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
39	POLR2A	chr10:37463279-37463367	A549	lung:	n/a	n/a
40	POLR2A	chr10:37459762-37460002	A549	lung:	n/a	n/a
41	POLR2A	chr10:37483410-37483418	A549	lung:	n/a	n/a
42	POLR2A	chr10:37452217-37452305	A549	lung:	n/a	n/a
43	POLR2A	chr10:37471191-37471312	A549	lung:	n/a	n/a
44	POLR2A	chr10:37459294-37459549	A549	lung:	n/a	n/a
45	POLR2A	chr10:37457524-37457540	A549	lung:	n/a	n/a
46	POLR2A	chr10:37459333-37459372	Gliobla	brain:	n/a	n/a
47	POLR2A	chr10:37471589-37471694	A549	lung:	n/a	n/a
48	POLR2A	chr10:37475080-37475168	A549	lung:	n/a	n/a
49	SP1	chr10:37471530-37472056	A549	lung:	n/a	n/a
50	SP1	chr10:37471517-37472085	A549	lung:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 674 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181473858	chr10:37450464-37450465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540261071	chr10:37450469-37450470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560213933	chr10:37450474-37450475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138472023	chr10:37450530-37450531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567309265	chr10:37450532-37450533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566955247	chr10:37450597-37450598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186588985	chr10:37450617-37450618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536002847	chr10:37450631-37450632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562657261	chr10:37450646-37450647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191034603	chr10:37450648-37450649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180940133	chr10:37450658-37450659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551644214	chr10:37450665-37450666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148842136	chr10:37450703-37450704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185410903	chr10:37450709-37450710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546559991	chr10:37450710-37450711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566541112	chr10:37450754-37450755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535514504	chr10:37450759-37450760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189797108	chr10:37450762-37450763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183548058	chr10:37450771-37450772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372960724	chr10:37450781-37450782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77165091	chr10:37450782-37450783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188768917	chr10:37450791-37450792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114614308	chr10:37450798-37450799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570798059	chr10:37450826-37450827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553762673	chr10:37450859-37450860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573683033	chr10:37450873-37450874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191891181	chr10:37450925-37450926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556027005	chr10:37450948-37450949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183261068	chr10:37450950-37450951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188328436	chr10:37450953-37450954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149323840	chr10:37450972-37450973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73242792	chr10:37450998-37450999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527547076	chr10:37451007-37451008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540934294	chr10:37451016-37451017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143458481	chr10:37451021-37451022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529291431	chr10:37451023-37451024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191567217	chr10:37451035-37451036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569283499	chr10:37451039-37451040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531857067	chr10:37451040-37451041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551651806	chr10:37451042-37451043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572970867	chr10:37451045-37451046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147988771	chr10:37451060-37451061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183901382	chr10:37451064-37451065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186798508	chr10:37451080-37451081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143402831	chr10:37451082-37451083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147336994	chr10:37451086-37451087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191266073	chr10:37451113-37451114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545103091	chr10:37451115-37451116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185695821	chr10:37451126-37451127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543845889	chr10:37451129-37451130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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

Chromatin state (count:3 , 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

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