Variant report

Variant	nsv947848
Chromosome Location	chr10:37460858-37495018
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	CEBPB	chr10:37487403-37487685	A549	lung:	n/a	n/a
2	CEBPB	chr10:37487363-37487743	A549	lung:	n/a	n/a
3	CEBPB	chr10:37487370-37487673	HepG2	liver:	n/a	n/a
4	CTCF	chr10:37491880-37492030	HepG2	liver:	n/a	n/a
5	CTCF	chr10:37469711-37469782	Lung_OC	lung:	n/a	n/a
6	CTCF	chr10:37484346-37484411	GM20000	blood:	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	chr10:37486296-37486408	GM13977	blood:	n/a	n/a
10	CTCF	chr10:37486131-37486169	GM20000	blood:	n/a	n/a
11	CTCF	chr10:37491863-37491898	Lung_OC	lung:	n/a	n/a
12	CTCF	chr10:37481138-37481209	Kidney_OC	kidney:	n/a	n/a
13	FOXA1	chr10:37482293-37482719	HepG2	liver:	n/a	n/a
14	FOXA1	chr10:37470551-37471013	HepG2	liver:	n/a	n/a
15	FOXA2	chr10:37485922-37486464	A549	lung:	n/a	chr10:37486060-37486072
16	FOXA2	chr10:37471564-37472016	A549	lung:	n/a	n/a
17	FOXA2	chr10:37462328-37462875	A549	lung:	n/a	chr10:37462491-37462503
18	FOXA2	chr10:37471589-37472076	A549	lung:	n/a	n/a
19	FOXA2	chr10:37474195-37474667	A549	lung:	n/a	chr10:37474292-37474304
20	MAFK	chr10:37487268-37487416	HepG2	liver:	n/a	chr10:37487343-37487358
21	MAFK	chr10:37487282-37487403	HepG2	liver:	n/a	chr10:37487343-37487358
22	NR3C1	chr10:37483252-37483794	A549	lung:	n/a	n/a
23	NR3C1	chr10:37483285-37483776	A549	lung:	n/a	n/a
24	NR3C1	chr10:37471501-37471958	A549	lung:	n/a	chr10:37471855-37471872
25	NR3C1	chr10:37471477-37472045	A549	lung:	n/a	chr10:37471855-37471872
26	NR3C1	chr10:37483454-37483779	A549	lung:	n/a	n/a
27	NR3C1	chr10:37483307-37483782	A549	lung:	n/a	n/a
28	NR3C1	chr10:37471507-37472170	A549	lung:	n/a	chr10:37471855-37471872
29	NR3C1	chr10:37483385-37483688	A549	lung:	n/a	n/a
30	NR3C1	chr10:37471535-37472094	A549	lung:	n/a	chr10:37471855-37471872
31	NR3C1	chr10:37483309-37483816	A549	lung:	n/a	n/a
32	NR3C1	chr10:37471501-37472116	A549	lung:	n/a	chr10:37471855-37471872
33	NR3C1	chr10:37471508-37472075	A549	lung:	n/a	chr10:37471855-37471872
34	POLR2A	chr10:37483410-37483418	A549	lung:	n/a	n/a
35	POLR2A	chr10:37463279-37463367	A549	lung:	n/a	n/a
36	POLR2A	chr10:37471191-37471312	A549	lung:	n/a	n/a
37	POLR2A	chr10:37484534-37484626	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:37475080-37475168	A549	lung:	n/a	n/a
39	POLR2A	chr10:37490115-37490307	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:37471589-37471694	A549	lung:	n/a	n/a
41	SP1	chr10:37471517-37472085	A549	lung:	n/a	n/a
42	SP1	chr10:37485911-37486400	A549	lung:	n/a	n/a
43	SP1	chr10:37471530-37472056	A549	lung:	n/a	n/a
44	SP1	chr10:37462287-37462793	A549	lung:	n/a	n/a
45	STAT3	chr10:37485497-37485518	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr10:37488181-37488277	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ANKRD30A	TF binding region

Extended variants
information (count: 984 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:984 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142416146	chr10:37469730-37469731	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs146990705	chr10:37470798-37470799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs145990047	chr10:37470868-37470869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147607020	chr10:37470964-37470965	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs28546132	chr10:37471696-37471697	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576566064	chr10:37471770-37471771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538762015	chr10:37471800-37471801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs559102259	chr10:37471819-37471820	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs373466316	chr10:37471862-37471863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572591280	chr10:37471864-37471865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541692297	chr10:37471893-37471894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs375580282	chr10:37471986-37471987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561272481	chr10:37472031-37472032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574821287	chr10:37472038-37472039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574814580	chr10:37472114-37472115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs371212766	chr10:37472138-37472139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs542979068	chr10:37472149-37472150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs187102778	chr10:37479608-37479609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71489120	chr10:37479637-37479638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111271486	chr10:37479638-37479639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71489121	chr10:37479640-37479641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566403955	chr10:37479645-37479646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568853937	chr10:37479671-37479672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182690224	chr10:37479691-37479692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551106238	chr10:37479692-37479693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71485976	chr10:37479718-37479719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4121289	chr10:37479719-37479720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372912517	chr10:37479725-37479726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571281087	chr10:37479735-37479736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533654989	chr10:37479742-37479743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73242800	chr10:37479746-37479747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186829522	chr10:37479750-37479751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540069153	chr10:37479752-37479753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536128001	chr10:37479760-37479761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71485975	chr10:37479763-37479764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556070496	chr10:37479768-37479769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576277254	chr10:37479771-37479772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564696838	chr10:37479788-37479789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544558281	chr10:37479791-37479792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557874918	chr10:37479808-37479809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578009536	chr10:37479810-37479811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540775493	chr10:37479812-37479813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560658034	chr10:37479846-37479847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548814053	chr10:37479861-37479862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529545683	chr10:37479863-37479864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71489122	chr10:37479881-37479882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1782076	chr10:37479884-37479885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs71489123	chr10:37479894-37479895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182682031	chr10:37479915-37479916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551456792	chr10:37479926-37479927	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	chr10:37479600-37490800	Weak transcription	A549	lung
2	chr10:37490800-37491200	Strong transcription	A549	lung
3	chr10:37491200-37507600	Weak transcription	A549	lung

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