Variant report

Variant	esv1828977
Chromosome Location	chr10:37438701-37485951
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	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
3	CTCF	chr10:37446718-37446806	Lung_OC	lung:	n/a	n/a
4	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
5	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
6	CTCF	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
8	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
9	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr10:37442159-37442261	K562	blood:	n/a	n/a
12	CTCF	chr10:37442131-37442208	GM20000	blood:	n/a	n/a
13	E2F4	chr10:37446270-37446422	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
15	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
16	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
17	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
19	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
20	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
21	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
22	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
23	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
24	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
25	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
26	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
27	MAFF	chr10:37447788-37447979	HepG2	liver:	n/a	n/a
28	MAFK	chr10:37447832-37448011	IMR90	lung:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
29	MAFK	chr10:37447782-37448058	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
30	MAFK	chr10:37447778-37447999	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
31	MAFK	chr10:37439661-37439715	HepG2	liver:	n/a	n/a
32	NR3C1	chr10:37448652-37449197	A549	lung:	n/a	chr10:37448958-37448975
33	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a
34	NR3C1	chr10:37483454-37483779	A549	lung:	n/a	n/a
35	NR3C1	chr10:37483309-37483816	A549	lung:	n/a	n/a
36	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
37	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
38	NR3C1	chr10:37448740-37449074	A549	lung:	n/a	chr10:37448958-37448975
39	NR3C1	chr10:37471507-37472170	A549	lung:	n/a	chr10:37471855-37471872
40	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
41	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
42	NR3C1	chr10:37448651-37449170	A549	lung:	n/a	chr10:37448958-37448975
43	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
44	NR3C1	chr10:37459685-37460255	A549	lung:	n/a	n/a
45	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
46	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
47	NR3C1	chr10:37471501-37472116	A549	lung:	n/a	chr10:37471855-37471872
48	NR3C1	chr10:37448671-37449107	A549	lung:	n/a	chr10:37448958-37448975
49	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
50	NR3C1	chr10:37459715-37460235	A549	lung:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 1226 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1226 , 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	rs543180343	chr10:37438702-37438703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192432374	chr10:37438712-37438713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs267602480	chr10:37438714-37438715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200260827	chr10:37438725-37438726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs267602481	chr10:37438727-37438728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552047613	chr10:37438730-37438731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201360743	chr10:37438746-37438747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199571878	chr10:37438753-37438754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527641248	chr10:37438767-37438768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376821949	chr10:37438772-37438773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368836727	chr10:37438802-37438803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373024622	chr10:37438807-37438808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377016392	chr10:37438808-37438809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142471234	chr10:37438810-37438811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567628202	chr10:37438812-37438813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78916295	chr10:37438839-37438840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377558375	chr10:37438881-37438882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536731413	chr10:37438882-37438883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551268572	chr10:37438883-37438884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550040611	chr10:37438907-37438908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570254086	chr10:37438910-37438911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114515059	chr10:37438941-37438942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559249503	chr10:37438974-37438975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572791106	chr10:37439007-37439008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183974465	chr10:37439037-37439038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs554527905	chr10:37439040-37439041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188518400	chr10:37439044-37439045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543492043	chr10:37439063-37439064	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs571182171	chr10:37439096-37439097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576581608	chr10:37439187-37439188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34077254	chr10:37439216-37439217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs116505955	chr10:37439226-37439227	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559189419	chr10:37439230-37439231	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs551224606	chr10:37439249-37439250	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371649465	chr10:37439256-37439257	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117871257	chr10:37439288-37439289	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527977948	chr10:37439330-37439331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111234514	chr10:37439365-37439366	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548218247	chr10:37439420-37439421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561320476	chr10:37439425-37439426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193104588	chr10:37439433-37439434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550246343	chr10:37439439-37439440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533757176	chr10:37439442-37439443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570168031	chr10:37439476-37439477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557955067	chr10:37439477-37439478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116106494	chr10:37439515-37439516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566303670	chr10:37439519-37439520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535310956	chr10:37439520-37439521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555001912	chr10:37439533-37439534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574368981	chr10:37439534-37439535	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:9 , 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

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