Variant report

Variant	esv1797937
Chromosome Location	chr10:37447050-37486764
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	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
2	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
3	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
5	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
6	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
7	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
8	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
11	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
12	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
13	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
14	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
15	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
16	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
17	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
18	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
19	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
20	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
21	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
22	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
23	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
24	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
25	MAFF	chr10:37447788-37447979	HepG2	liver:	n/a	n/a
26	MAFK	chr10:37447832-37448011	IMR90	lung:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
27	MAFK	chr10:37447782-37448058	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
28	MAFK	chr10:37447778-37447999	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
29	NR3C1	chr10:37448659-37449129	A549	lung:	n/a	chr10:37448958-37448975
30	NR3C1	chr10:37471535-37472094	A549	lung:	n/a	chr10:37471855-37471872
31	NR3C1	chr10:37471501-37472116	A549	lung:	n/a	chr10:37471855-37471872
32	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
33	NR3C1	chr10:37459709-37460166	A549	lung:	n/a	n/a
34	NR3C1	chr10:37448651-37449170	A549	lung:	n/a	chr10:37448958-37448975
35	NR3C1	chr10:37483454-37483779	A549	lung:	n/a	n/a
36	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
37	NR3C1	chr10:37459685-37460255	A549	lung:	n/a	n/a
38	NR3C1	chr10:37448671-37449107	A549	lung:	n/a	chr10:37448958-37448975
39	NR3C1	chr10:37483285-37483776	A549	lung:	n/a	n/a
40	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
41	NR3C1	chr10:37459715-37460235	A549	lung:	n/a	n/a
42	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
43	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
44	NR3C1	chr10:37459716-37460283	A549	lung:	n/a	n/a
45	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
46	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
47	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
48	NR3C1	chr10:37448652-37449197	A549	lung:	n/a	chr10:37448958-37448975
49	NR3C1	chr10:37448740-37449074	A549	lung:	n/a	chr10:37448958-37448975
50	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 1076 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549028207	chr10:37447074-37447075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569027327	chr10:37447106-37447107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537979849	chr10:37447119-37447120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2788630	chr10:37447133-37447134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578138826	chr10:37447173-37447174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534501426	chr10:37447176-37447177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554507841	chr10:37447177-37447178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573637882	chr10:37447193-37447194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182897829	chr10:37447194-37447195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562540977	chr10:37447197-37447198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576184965	chr10:37447198-37447199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560301967	chr10:37447815-37447816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571664478	chr10:37447820-37447821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539611471	chr10:37447854-37447855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553074101	chr10:37447858-37447859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs547987827	chr10:37447879-37447880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567893988	chr10:37447885-37447886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536936475	chr10:37447934-37447935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201641324	chr10:37447935-37447936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs187707452	chr10:37447963-37447964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373253598	chr10:37447970-37447971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs538266091	chr10:37448010-37448011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558589089	chr10:37448011-37448012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572071096	chr10:37448021-37448022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540758565	chr10:37448024-37448025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs377504910	chr10:37448034-37448035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192201932	chr10:37448041-37448042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs141153586	chr10:37448056-37448057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7093296	chr10:37448057-37448058	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535877507	chr10:37448067-37448068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563443768	chr10:37448108-37448109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531695555	chr10:37448125-37448126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545094682	chr10:37448126-37448127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184410845	chr10:37448174-37448175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs117578120	chr10:37448199-37448200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs567518436	chr10:37448215-37448216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368369362	chr10:37448216-37448217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs150708890	chr10:37448251-37448252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12770707	chr10:37448261-37448262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs530322765	chr10:37448266-37448267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs58528600	chr10:37448281-37448282	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12770850	chr10:37448286-37448287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138337902	chr10:37448302-37448303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538602836	chr10:37448303-37448304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs12769271	chr10:37448310-37448311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs565707520	chr10:37448319-37448320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112295938	chr10:37448331-37448332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534406896	chr10:37448335-37448336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554245325	chr10:37448336-37448337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563532471	chr10:37448345-37448346	ZNF genes & repeats	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37446400-37447200	Weak transcription	A549	lung
2	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
3	chr10:37448400-37454800	Weak transcription	A549	lung
4	chr10:37454800-37455200	Enhancers	A549	lung
5	chr10:37479600-37490800	Weak transcription	A549	lung

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