Variant report

Variant	esv1829407
Chromosome Location	chr10:37440522-37486964
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	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr10:37442159-37442261	K562	blood:	n/a	n/a
5	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
7	CTCF	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
8	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
10	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
11	CTCF	chr10:37446718-37446806	Lung_OC	lung:	n/a	n/a
12	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
13	CTCF	chr10:37442131-37442208	GM20000	blood:	n/a	n/a
14	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
15	E2F4	chr10:37446270-37446422	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
17	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
18	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
20	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
21	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
22	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
23	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
24	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
25	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
26	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
27	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
28	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
29	MAFF	chr10:37447788-37447979	HepG2	liver:	n/a	n/a
30	MAFK	chr10:37447778-37447999	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
31	MAFK	chr10:37447782-37448058	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
32	MAFK	chr10:37447832-37448011	IMR90	lung:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
33	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
34	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
35	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
36	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
37	NR3C1	chr10:37459715-37460235	A549	lung:	n/a	n/a
38	NR3C1	chr10:37448659-37449129	A549	lung:	n/a	chr10:37448958-37448975
39	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
40	NR3C1	chr10:37448651-37449170	A549	lung:	n/a	chr10:37448958-37448975
41	NR3C1	chr10:37459685-37460255	A549	lung:	n/a	n/a
42	NR3C1	chr10:37459709-37460166	A549	lung:	n/a	n/a
43	NR3C1	chr10:37483309-37483816	A549	lung:	n/a	n/a
44	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a
45	NR3C1	chr10:37448654-37449122	A549	lung:	n/a	chr10:37448958-37448975
46	NR3C1	chr10:37483285-37483776	A549	lung:	n/a	n/a
47	NR3C1	chr10:37448671-37449107	A549	lung:	n/a	chr10:37448958-37448975
48	NR3C1	chr10:37448740-37449074	A549	lung:	n/a	chr10:37448958-37448975
49	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
50	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 1212 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570103470	chr10:37440524-37440525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17605812	chr10:37440531-37440532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17605819	chr10:37440533-37440534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17605826	chr10:37440540-37440541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17605833	chr10:37440567-37440568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17590023	chr10:37440569-37440570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539096590	chr10:37440583-37440584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17590030	chr10:37440584-37440585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552987957	chr10:37440600-37440601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17590037	chr10:37440606-37440607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17590044	chr10:37440607-37440608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181961697	chr10:37440613-37440614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17605840	chr10:37440627-37440628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17605847	chr10:37440631-37440632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17605854	chr10:37440633-37440634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17605861	chr10:37440643-37440644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142392657	chr10:37440648-37440649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17590051	chr10:37440662-37440663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17590058	chr10:37440663-37440664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555247971	chr10:37440683-37440684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575428331	chr10:37440687-37440688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541674242	chr10:37440691-37440692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558127560	chr10:37440718-37440719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577263203	chr10:37440731-37440732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17590065	chr10:37440732-37440733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17590072	chr10:37440739-37440740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185618824	chr10:37440744-37440745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17605869	chr10:37440745-37440746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146396936	chr10:37440746-37440747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17605876	chr10:37440757-37440758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17605883	chr10:37440759-37440760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs45454100	chr10:37440778-37440779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562126776	chr10:37440779-37440780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17605890	chr10:37440781-37440782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531051403	chr10:37440820-37440821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550861735	chr10:37440822-37440823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17590079	chr10:37440827-37440828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190144413	chr10:37440839-37440840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17590086	chr10:37440849-37440850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17590092	chr10:37440854-37440855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181851505	chr10:37440858-37440859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17590099	chr10:37440859-37440860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186358541	chr10:37440861-37440862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17590106	chr10:37440879-37440880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17605897	chr10:37440894-37440895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367660636	chr10:37440902-37440903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs45590233	chr10:37440932-37440933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535182700	chr10:37440936-37440937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17605904	chr10:37440939-37440940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17605911	chr10:37440950-37440951	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37439400-37441200	Weak transcription	A549	lung
2	chr10:37441200-37441400	Enhancers	A549	lung
3	chr10:37446400-37447200	Weak transcription	A549	lung
4	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
5	chr10:37448400-37454800	Weak transcription	A549	lung
6	chr10:37454800-37455200	Enhancers	A549	lung
7	chr10:37479600-37490800	Weak transcription	A549	lung

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