Variant report

Variant	nsv901824
Chromosome Location	chr14:44546583-44630495
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	BRCA1	chr14:44618833-44619126	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr14:44582232-44582510	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr14:44560924-44561243	H1-hESC	embryonic stem cell:	n/a	chr14:44561060-44561071
4	CEBPB	chr14:44606738-44606986	HepG2	liver:	n/a	chr14:44606862-44606873
5	CEBPB	chr14:44560911-44561241	HepG2	liver:	n/a	chr14:44561060-44561071
6	CEBPB	chr14:44595859-44595978	A549	lung:	n/a	n/a
7	CEBPB	chr14:44560911-44561219	IMR90	lung:	n/a	chr14:44561060-44561071
8	CEBPB	chr14:44560981-44561240	A549	lung:	n/a	chr14:44561060-44561071
9	CEBPB	chr14:44595881-44596093	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:44560929-44561184	K562	blood:	n/a	chr14:44561060-44561071
11	CEBPB	chr14:44605865-44606139	A549	lung:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
12	CEBPB	chr14:44572581-44572713	HepG2	liver:	n/a	chr14:44572646-44572657 chr14:44572645-44572658
13	CEBPB	chr14:44599593-44600126	A549	lung:	n/a	chr14:44599949-44599960
14	CEBPB	chr14:44618834-44619117	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr14:44605796-44606154	Hela-S3	cervix:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
16	CEBPB	chr14:44605817-44606143	HepG2	liver:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
17	CEBPB	chr14:44599875-44600120	HepG2	liver:	n/a	chr14:44599949-44599960
18	CEBPB	chr14:44606767-44606976	H1-hESC	embryonic stem cell:	n/a	chr14:44606862-44606873
19	CHD2	chr14:44618838-44619102	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr14:44618763-44619199	SK-N-SH	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
21	CTCF	chr14:44618860-44619010	HPAF	blood vessel:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
22	CTCF	chr14:44618735-44619182	H1-hESC	embryonic stem cell:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
23	CTCF	chr14:44618925-44619039	GM13976	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
24	CTCF	chr14:44618860-44619010	GM12866	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
25	CTCF	chr14:44618880-44619030	HBMEC	blood vessel:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
26	CTCF	chr14:44618880-44619030	AG04450	lung:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
27	CTCF	chr14:44618900-44619050	Hela-S3	cervix:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
28	CTCF	chr14:44618860-44619010	NHEK	skin:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
29	CTCF	chr14:44618812-44619093	MCF-7	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
30	CTCF	chr14:44619020-44619170	A549	lung:	n/a	n/a
31	CTCF	chr14:44618900-44619050	HEK293	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
32	CTCF	chr14:44618900-44619050	HCT-116	colon:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
33	CTCF	chr14:44618860-44619010	HVMF	connective:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
34	CTCF	chr14:44618860-44619010	GM12872	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
35	CTCF	chr14:44618946-44618986	Lung_OC	lung:	n/a	n/a
36	CTCF	chr14:44618880-44619030	HPF	lung:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
37	CTCF	chr14:44618900-44619050	GM12869	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
38	CTCF	chr14:44618900-44619050	GM06990	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
39	CTCF	chr14:44618724-44619147	MCF-7	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
40	CTCF	chr14:44573591-44573608	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:44618826-44619099	Gliobla	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
42	CTCF	chr14:44618878-44619018	GM12892	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
43	CTCF	chr14:44618960-44619110	GM12872	blood:	n/a	n/a
44	CTCF	chr14:44618880-44619030	HRE	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
45	CTCF	chr14:44618900-44619050	MCF-7	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
46	CTCF	chr14:44580118-44580169	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr14:44618861-44619036	SK-N-SH_RA	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
48	CTCF	chr14:44618840-44619074	A549	lung:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
49	CTCF	chr14:44618900-44619050	HepG2	liver:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
50	CTCF	chr14:44618777-44619087	HepG2	liver:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958

No.	Distal block	Cell Line	Cell type
1	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
2	chr14:44370633..44373508-chr14:44616084..44618482,2	MCF-7	breast:
3	chr14:44370246..44372256-chr14:44617257..44619025,2	MCF-7	breast:
4	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:
5	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
6	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
7	chr14:44569949..44570449-chr8:101630587..101631141,2	MCF-7	breast:
8	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
9	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-6	chr14:44621313-44621629	l_977_chr14:44621312-44622966_testes
2	lnc-FSCB-7	chr14:44546737-44547087	NONHSAT036603
3	lnc-FSCB-6	chr14:44621821-44621918	l_977_chr14:44621312-44622966_testes
4	lnc-FSCB-6	chr14:44622029-44622354	l_977_chr14:44621312-44622966_testes
5	lnc-FSCB-6	chr14:44622425-44622966	l_977_chr14:44621312-44622966_testes

Variant related genes	Relation type
ENSG00000259137	TF binding region
ENSG00000259019	TF binding region
ENSG00000174226	chromatin interactions
ENSG00000253740	chromatin interactions

Extended variants
information (count: 749 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:749 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573524302	chr14:44546738-44546739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs376225876	chr14:44546745-44546746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs369028249	chr14:44546757-44546758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs142867665	chr14:44546761-44546762	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs532169551	chr14:44546805-44546806	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544290755	chr14:44546806-44546807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs562606568	chr14:44546822-44546823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs529894064	chr14:44546824-44546825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs556161984	chr14:44546826-44546827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs147442127	chr14:44546874-44546875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566643496	chr14:44546883-44546884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs560024116	chr14:44546919-44546920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs113968810	chr14:44546925-44546926	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs552189713	chr14:44546945-44546946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs571278141	chr14:44546975-44546976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs188771627	chr14:44547011-44547012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192151766	chr14:44547024-44547025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs114656065	chr14:44547026-44547027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs149932009	chr14:44547033-44547034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs183875168	chr14:44547039-44547040	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs188650853	chr14:44547051-44547052	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144933325	chr14:44547052-44547053	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs565029024	chr14:44547066-44547067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs559005641	chr14:44547068-44547069	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs529857172	chr14:44547171-44547172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs180803514	chr14:44547182-44547183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10146512	chr14:44547187-44547188	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs527514502	chr14:44547199-44547200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs552411830	chr14:44547201-44547202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs187836365	chr14:44549448-44549449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs151118500	chr14:44549449-44549450	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541328886	chr14:44549464-44549465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs8005077	chr14:44549480-44549481	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184455268	chr14:44549829-44549830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543562052	chr14:44549888-44549889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565507327	chr14:44549899-44549900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376136921	chr14:44549903-44549904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539084326	chr14:44549981-44549982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563653411	chr14:44549991-44549992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148950898	chr14:44550003-44550004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532419349	chr14:44550061-44550062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147069415	chr14:44550124-44550125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1955997	chr14:44550147-44550148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10139275	chr14:44550225-44550226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374506616	chr14:44550242-44550243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117147189	chr14:44550253-44550254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377549519	chr14:44550255-44550256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199587751	chr14:44550308-44550309	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553247219	chr14:44550311-44550312	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs528640602	chr14:44550331-44550332	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44549800-44550800	Enhancers	Fetal Heart	heart
2	chr14:44572800-44575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:44573400-44573800	Enhancers	Gastric	stomach
4	chr14:44573600-44574000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:44576400-44577000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:44577200-44578600	Enhancers	HMEC	breast
7	chr14:44577400-44578400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:44577400-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:44577600-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:44578000-44578400	Enhancers	NHEK	skin
11	chr14:44578400-44580600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:44578800-44579200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:44582400-44583400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:44582800-44583000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:44585400-44585800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:44590600-44591000	Enhancers	HMEC	breast
17	chr14:44590800-44591400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:44605200-44605600	Active TSS	A549	lung
19	chr14:44606400-44606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:44608400-44609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:44618800-44619000	Enhancers	Pancreas	Pancrea
22	chr14:44620200-44623600	Weak transcription	Pancreas	Pancrea
23	chr14:44623600-44624200	ZNF genes & repeats	Pancreas	Pancrea
24	chr14:44623800-44624200	Enhancers	NHDF-Ad	bronchial
25	chr14:44626800-44627200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:44629600-44630000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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