Variant report

Variant	nsv550418
Chromosome Location	chr10:37435689-37482552
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	chr10:37447106-37447182	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr10:37446718-37446806	Lung_OC	lung:	n/a	n/a
3	CTCF	chr10:37442159-37442261	K562	blood:	n/a	n/a
4	CTCF	chr10:37438290-37438316	GM13976	blood:	n/a	n/a
5	CTCF	chr10:37435309-37435701	MCF-7	breast:	n/a	n/a
6	CTCF	chr10:37477527-37477727	Lung_OC	lung:	n/a	n/a
7	CTCF	chr10:37452481-37452521	Medullo	brain:	n/a	n/a
8	CTCF	chr10:37475018-37475056	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr10:37458752-37458787	Lung_OC	lung:	n/a	n/a
10	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
11	CTCF	chr10:37452696-37452762	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr10:37442131-37442208	GM20000	blood:	n/a	n/a
14	E2F4	chr10:37446270-37446422	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr10:37451171-37451918	A549	lung:	n/a	n/a
16	EP300	chr10:37435311-37435980	A549	lung:	n/a	n/a
17	EP300	chr10:37435287-37436021	A549	lung:	n/a	n/a
18	EP300	chr10:37451298-37451858	A549	lung:	n/a	n/a
19	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
20	FOXA1	chr10:37435443-37435713	T-47D	breast:	n/a	n/a
21	FOXA1	chr10:37458759-37459221	HepG2	liver:	n/a	n/a
22	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
23	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
24	FOXA2	chr10:37451397-37451744	A549	lung:	n/a	chr10:37451428-37451440
25	FOXA2	chr10:37459827-37460275	A549	lung:	n/a	n/a
26	FOXA2	chr10:37435248-37435855	A549	lung:	n/a	n/a
27	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
28	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
29	FOXA2	chr10:37459763-37460276	A549	lung:	n/a	n/a
30	FOXA2	chr10:37435301-37435888	A549	lung:	n/a	n/a
31	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
32	GATA3	chr10:37435344-37435747	MCF-7	breast:	n/a	n/a
33	GATA3	chr10:37435251-37435813	A549	lung:	n/a	n/a
34	MAFF	chr10:37447788-37447979	HepG2	liver:	n/a	n/a
35	MAFK	chr10:37447782-37448058	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
36	MAFK	chr10:37436870-37437040	HepG2	liver:	n/a	n/a
37	MAFK	chr10:37439661-37439715	HepG2	liver:	n/a	n/a
38	MAFK	chr10:37447832-37448011	IMR90	lung:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
39	MAFK	chr10:37447778-37447999	HepG2	liver:	n/a	chr10:37447929-37447940 chr10:37447877-37447893 chr10:37447928-37447942
40	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
41	NR3C1	chr10:37459709-37460324	A549	lung:	n/a	n/a
42	NR3C1	chr10:37459743-37460302	A549	lung:	n/a	n/a
43	NR3C1	chr10:37471535-37472094	A549	lung:	n/a	chr10:37471855-37471872
44	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
45	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
46	NR3C1	chr10:37459709-37460166	A549	lung:	n/a	n/a
47	NR3C1	chr10:37448659-37449129	A549	lung:	n/a	chr10:37448958-37448975
48	NR3C1	chr10:37471507-37472170	A549	lung:	n/a	chr10:37471855-37471872
49	NR3C1	chr10:37460029-37460168	A549	lung:	n/a	n/a
50	NR3C1	chr10:37471501-37472116	A549	lung:	n/a	chr10:37471855-37471872

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:37188694..37189693-chr10:37435453..37435966,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 1107 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:1107 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1914169	chr10:37435689-37435690	Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570776503	chr10:37435698-37435699	Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114505927	chr10:37435762-37435763	Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373741875	chr10:37435801-37435802	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546918929	chr10:37435854-37435855	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1767345	chr10:37435885-37435886	Bivalent/Poised TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78161725	chr10:37435886-37435887	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555393691	chr10:37435901-37435902	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568867821	chr10:37435917-37435918	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538007535	chr10:37435923-37435924	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143986700	chr10:37435947-37435948	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557686588	chr10:37435953-37435954	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1767346	chr10:37435966-37435967	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77459297	chr10:37435993-37435994	Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77551789	chr10:37436001-37436002	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577939195	chr10:37436008-37436009	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80012982	chr10:37436011-37436012	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72787530	chr10:37436046-37436047	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74662642	chr10:37436059-37436060	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74723478	chr10:37436085-37436086	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540515419	chr10:37436094-37436095	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554150568	chr10:37436113-37436114	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573273366	chr10:37436139-37436140	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541864747	chr10:37436198-37436199	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184402683	chr10:37436239-37436240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200768299	chr10:37436267-37436268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544765048	chr10:37436326-37436327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201180196	chr10:37436348-37436349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564319804	chr10:37436363-37436364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368742296	chr10:37436367-37436368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546884549	chr10:37436371-37436372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201760233	chr10:37436394-37436395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528840320	chr10:37436432-37436433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375201053	chr10:37436444-37436445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548715889	chr10:37436497-37436498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200017300	chr10:37436513-37436514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74135268	chr10:37436573-37436574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200047492	chr10:37436580-37436581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117029961	chr10:37436581-37436582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571459070	chr10:37436590-37436591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370363608	chr10:37436620-37436621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554064494	chr10:37436625-37436626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189935080	chr10:37436641-37436642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535808332	chr10:37436664-37436665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553475035	chr10:37436670-37436671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555499057	chr10:37436689-37436690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368861935	chr10:37436700-37436701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575624080	chr10:37436701-37436702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371077062	chr10:37436725-37436726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192763856	chr10:37436734-37436735	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37434600-37436000	Enhancers	A549	lung
2	chr10:37435200-37435800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr10:37435200-37435800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr10:37435600-37436200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:37436000-37439000	Weak transcription	A549	lung
6	chr10:37439000-37439400	Active TSS	A549	lung
7	chr10:37439400-37441200	Weak transcription	A549	lung
8	chr10:37441200-37441400	Enhancers	A549	lung
9	chr10:37446400-37447200	Weak transcription	A549	lung
10	chr10:37447800-37448400	ZNF genes & repeats	A549	lung
11	chr10:37448400-37454800	Weak transcription	A549	lung
12	chr10:37454800-37455200	Enhancers	A549	lung
13	chr10:37479600-37490800	Weak transcription	A549	lung

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