Variant report

Variant	esv1797463
Chromosome Location	chr10:37451236-37486964
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	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
2	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
4	CTCF	chr10:37484346-37484411	GM20000	blood:	n/a	n/a
5	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
6	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
7	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
8	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
11	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
12	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
13	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
15	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
16	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
17	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
18	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
19	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
20	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
21	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
22	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
23	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
24	NR3C1	chr10:37471507-37472170	A549	lung:	n/a	chr10:37471855-37471872
25	NR3C1	chr10:37483454-37483779	A549	lung:	n/a	n/a
26	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
27	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
28	NR3C1	chr10:37459709-37460166	A549	lung:	n/a	n/a
29	NR3C1	chr10:37459716-37460283	A549	lung:	n/a	n/a
30	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
31	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
32	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
33	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
34	NR3C1	chr10:37459715-37460235	A549	lung:	n/a	n/a
35	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
36	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a
37	NR3C1	chr10:37483285-37483776	A549	lung:	n/a	n/a
38	NR3C1	chr10:37471501-37472116	A549	lung:	n/a	chr10:37471855-37471872
39	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
40	NR3C1	chr10:37459685-37460255	A549	lung:	n/a	n/a
41	NR3C1	chr10:37483309-37483816	A549	lung:	n/a	n/a
42	NR3C1	chr10:37471535-37472094	A549	lung:	n/a	chr10:37471855-37471872
43	POLR2A	chr10:37471589-37471694	A549	lung:	n/a	n/a
44	POLR2A	chr10:37459762-37460002	A549	lung:	n/a	n/a
45	POLR2A	chr10:37457524-37457540	A549	lung:	n/a	n/a
46	POLR2A	chr10:37459294-37459549	A549	lung:	n/a	n/a
47	POLR2A	chr10:37452217-37452305	A549	lung:	n/a	n/a
48	POLR2A	chr10:37471191-37471312	A549	lung:	n/a	n/a
49	POLR2A	chr10:37483410-37483418	A549	lung:	n/a	n/a
50	POLR2A	chr10:37459333-37459372	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 839 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:839 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571867786	chr10:37451242-37451243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527928939	chr10:37451269-37451270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182034863	chr10:37451272-37451273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567987618	chr10:37451277-37451278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536974465	chr10:37451278-37451279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549475756	chr10:37451302-37451303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185051728	chr10:37451328-37451329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188973780	chr10:37451331-37451332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558275303	chr10:37451333-37451334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1200879	chr10:37451334-37451335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143219784	chr10:37451344-37451345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566099043	chr10:37451349-37451350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574613064	chr10:37451350-37451351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543711744	chr10:37451352-37451353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562694537	chr10:37451365-37451366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374745542	chr10:37451377-37451378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545509364	chr10:37451382-37451383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150868523	chr10:37451407-37451408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527864952	chr10:37451413-37451414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547981648	chr10:37451418-37451419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561481437	chr10:37451451-37451452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181391673	chr10:37451489-37451490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs41276122	chr10:37451499-37451500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372476915	chr10:37451505-37451506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185676342	chr10:37451510-37451511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375532925	chr10:37451511-37451512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190042196	chr10:37451525-37451526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549531740	chr10:37451532-37451533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199627532	chr10:37451543-37451544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372198772	chr10:37451552-37451553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370242152	chr10:37451553-37451554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200801949	chr10:37451554-37451555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369175064	chr10:37451555-37451556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201777333	chr10:37451563-37451564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371253665	chr10:37451583-37451584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373828826	chr10:37451584-37451585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12766884	chr10:37451586-37451587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557264466	chr10:37451602-37451603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376283553	chr10:37451603-37451604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201701209	chr10:37451605-37451606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180692151	chr10:37451617-37451618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12242368	chr10:37451627-37451628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1200878	chr10:37451644-37451645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201642824	chr10:37451647-37451648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368459351	chr10:37451652-37451653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377742235	chr10:37451662-37451663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561277618	chr10:37451677-37451678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371388899	chr10:37451678-37451679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530363730	chr10:37451687-37451688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376097171	chr10:37451696-37451697	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: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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