Variant report

Variant	nsv983953
Chromosome Location	chr14:43756853-43780754
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	ARID3A	chr14:43770928-43770931	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:43775448-43775758	HepG2	liver:	n/a	chr14:43775607-43775618 chr14:43775606-43775619
3	CEBPB	chr14:43758431-43758726	HepG2	liver:	n/a	chr14:43758603-43758614
4	CEBPB	chr14:43777599-43778357	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:43758520-43758670	GM12867	blood:	n/a	n/a
6	CTCF	chr14:43769741-43769762	GM13976	blood:	n/a	n/a
7	CTCF	chr14:43769528-43769566	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:43762645-43762723	GM13977	blood:	n/a	n/a
9	E2F4	chr14:43777620-43778122	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr14:43766898-43767000	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr14:43775818-43776305	MCF-7	breast:	n/a	chr14:43776017-43776024 chr14:43776111-43776121
12	FOS	chr14:43777572-43778297	MCF10A-Er-Src	breast:	n/a	chr14:43777888-43777900
13	FOS	chr14:43777648-43777849	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:43777572-43778287	MCF10A-Er-Src	breast:	n/a	chr14:43777888-43777900
15	FOS	chr14:43777571-43778255	MCF10A-Er-Src	breast:	n/a	chr14:43777888-43777900
16	GABPA	chr14:43775001-43775134	HepG2	liver:	n/a	n/a
17	GATA3	chr14:43777202-43778435	MCF-7	breast:	n/a	n/a
18	GATA3	chr14:43763657-43764199	MCF-7	breast:	n/a	chr14:43764174-43764190
19	JUND	chr14:43758997-43759271	HepG2	liver:	n/a	chr14:43759129-43759140
20	MAFF	chr14:43775316-43775626	HepG2	liver:	n/a	n/a
21	MAFF	chr14:43779029-43779278	HepG2	liver:	n/a	n/a
22	MAFF	chr14:43774954-43774976	HepG2	liver:	n/a	n/a
23	MAFK	chr14:43775295-43775618	HepG2	liver:	n/a	chr14:43775470-43775486 chr14:43775470-43775485 chr14:43775470-43775481 chr14:43775469-43775483 chr14:43775470-43775481 chr14:43775471-43775482
24	MAFK	chr14:43759592-43759714	HepG2	liver:	n/a	n/a
25	MAFK	chr14:43760141-43760415	HepG2	liver:	n/a	n/a
26	MAFK	chr14:43779044-43779324	HepG2	liver:	n/a	n/a
27	MAFK	chr14:43779035-43779332	HepG2	liver:	n/a	n/a
28	MAFK	chr14:43775312-43775596	HepG2	liver:	n/a	chr14:43775470-43775486 chr14:43775470-43775485 chr14:43775470-43775481 chr14:43775469-43775483 chr14:43775470-43775481 chr14:43775471-43775482
29	MYC	chr14:43769533-43769602	MCF-7	breast:	n/a	n/a
30	MYC	chr14:43769447-43769595	MCF-7	breast:	n/a	n/a
31	MYC	chr14:43777609-43777887	MCF10A-Er-Src	breast:	n/a	n/a
32	NR2F2	chr14:43777515-43777975	MCF-7	breast:	n/a	n/a
33	POLR2A	chr14:43769503-43769598	Gliobla	brain:	n/a	n/a
34	POLR2A	chr14:43769578-43769602	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:43777674-43778172	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr14:43778024-43778080	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr14:43769449-43769595	MCF-7	breast:	n/a	n/a
38	POLR2A	chr14:43769444-43769445	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:43769647-43769693	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:43759506-43759624	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr14:43757926-43757990	MCF10A-Er-Src	breast:	n/a	n/a
42	SIN3AK20	chr14:43775543-43776348	MCF-7	breast:	n/a	n/a
43	SP1	chr14:43769488-43769820	H1-hESC	embryonic stem cell:	n/a	n/a
44	SPI1	chr14:43769835-43769959	K562	blood:	n/a	n/a
45	STAT1	chr14:43777585-43778258	Hela-S3	cervix:	n/a	chr14:43777754-43777765
46	STAT3	chr14:43777569-43778277	MCF10A-Er-Src	breast:	n/a	chr14:43777754-43777765
47	STAT3	chr14:43767267-43767282	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr14:43777570-43777888	MCF10A-Er-Src	breast:	n/a	chr14:43777754-43777765
49	STAT3	chr14:43777569-43778241	MCF10A-Er-Src	breast:	n/a	chr14:43777754-43777765
50	STAT3	chr14:43777630-43778259	Hela-S3	cervix:	n/a	chr14:43777754-43777765

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:43753082..43755814-chr14:43755842..43757699,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-7	chr14:43769466-43769798	NONHSAT036596

Variant related genes	Relation type
HNRNPUP1	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554308381	chr14:43766115-43766116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188919577	chr14:43766150-43766151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs11846865	chr14:43766168-43766169	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543010693	chr14:43766207-43766208	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs193070124	chr14:43766213-43766214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs184212097	chr14:43766232-43766233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs563914012	chr14:43766282-43766283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187398233	chr14:43766324-43766325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs7156437	chr14:43766900-43766901	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs141084056	chr14:43766904-43766905	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140194069	chr14:43766907-43766908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139247838	chr14:43766976-43766977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185867360	chr14:43769502-43769503	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs75663796	chr14:43769506-43769507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs577039959	chr14:43769508-43769509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs566804926	chr14:43769543-43769544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12890469	chr14:43769546-43769547	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530037185	chr14:43769549-43769550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs369711565	chr14:43769571-43769572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs368281499	chr14:43769593-43769594	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs368435003	chr14:43769604-43769605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs190975311	chr14:43769608-43769609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs142150271	chr14:43769669-43769670	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs112757416	chr14:43769671-43769672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs528339375	chr14:43769689-43769690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs546934225	chr14:43769701-43769702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs571430212	chr14:43769715-43769716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs538866060	chr14:43769717-43769718	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs549283968	chr14:43769731-43769732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs550695419	chr14:43769764-43769765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs370570992	chr14:43777648-43777649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572554888	chr14:43777791-43777792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78366464	chr14:43777815-43777816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544036632	chr14:43777817-43777818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562706608	chr14:43777848-43777849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376063420	chr14:43777863-43777864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186721026	chr14:43777881-43777882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57843252	chr14:43777885-43777886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145738958	chr14:43777891-43777892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189102640	chr14:43777913-43777914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559701592	chr14:43777930-43777931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551389195	chr14:43777931-43777932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76536244	chr14:43777940-43777941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571098463	chr14:43777950-43777951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571327263	chr14:43777956-43777957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374195000	chr14:43777957-43777958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs180943029	chr14:43777978-43777979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147805667	chr14:43778000-43778001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79538014	chr14:43778069-43778070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140180614	chr14:43778107-43778108	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43777600-43778400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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