Variant report

Variant	nsv564665
Chromosome Location	chr14:44507227-44665382
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	BACH1	chr14:44632100-44632238	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr14:44618833-44619126	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:44582232-44582510	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:44595881-44596093	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:44560981-44561240	A549	lung:	n/a	chr14:44561060-44561071
6	CEBPB	chr14:44633186-44633505	HepG2	liver:	n/a	chr14:44633351-44633362
7	CEBPB	chr14:44572581-44572713	HepG2	liver:	n/a	chr14:44572646-44572657 chr14:44572645-44572658
8	CEBPB	chr14:44657629-44657829	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr14:44605817-44606143	HepG2	liver:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
10	CEBPB	chr14:44605865-44606139	A549	lung:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
11	CEBPB	chr14:44541354-44541571	HepG2	liver:	n/a	chr14:44541425-44541436
12	CEBPB	chr14:44560929-44561184	K562	blood:	n/a	chr14:44561060-44561071
13	CEBPB	chr14:44618834-44619117	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr14:44599875-44600120	HepG2	liver:	n/a	chr14:44599949-44599960
15	CEBPB	chr14:44599593-44600126	A549	lung:	n/a	chr14:44599949-44599960
16	CEBPB	chr14:44595859-44595978	A549	lung:	n/a	n/a
17	CEBPB	chr14:44606738-44606986	HepG2	liver:	n/a	chr14:44606862-44606873
18	CEBPB	chr14:44605796-44606154	Hela-S3	cervix:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
19	CEBPB	chr14:44560924-44561243	H1-hESC	embryonic stem cell:	n/a	chr14:44561060-44561071
20	CEBPB	chr14:44633192-44633496	Hela-S3	cervix:	n/a	chr14:44633351-44633362
21	CEBPB	chr14:44560911-44561219	IMR90	lung:	n/a	chr14:44561060-44561071
22	CEBPB	chr14:44560911-44561241	HepG2	liver:	n/a	chr14:44561060-44561071
23	CEBPB	chr14:44606767-44606976	H1-hESC	embryonic stem cell:	n/a	chr14:44606862-44606873
24	CHD2	chr14:44618838-44619102	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr14:44618900-44619050	HL-60	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
26	CTCF	chr14:44618900-44619050	HMEC	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
27	CTCF	chr14:44618880-44619030	GM12871	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
28	CTCF	chr14:44618880-44619030	HCT-116	colon:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
29	CTCF	chr14:44618842-44619092	LNCaP	prostate:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
30	CTCF	chr14:44618860-44619010	HFF	foreskin:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
31	CTCF	chr14:44618900-44619050	HPAF	blood vessel:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
32	CTCF	chr14:44618860-44619010	GM12866	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
33	CTCF	chr14:44618880-44619030	GM12869	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
34	CTCF	chr14:44618861-44619036	SK-N-SH_RA	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
35	CTCF	chr14:44618813-44619071	Medullo	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
36	CTCF	chr14:44619020-44619170	A549	lung:	n/a	n/a
37	CTCF	chr14:44618860-44619010	GM12872	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
38	CTCF	chr14:44587140-44587290	HRE	kidney:	n/a	n/a
39	CTCF	chr14:44618860-44619010	HVMF	connective:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
40	CTCF	chr14:44618780-44618930	AG09309	skin:	n/a	n/a
41	CTCF	chr14:44618920-44619070	SAEC	small airway:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
42	CTCF	chr14:44618840-44618990	RPTEC	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
43	CTCF	chr14:44618920-44619070	HRE	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
44	CTCF	chr14:44618879-44618881	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr14:44618852-44619023	H1-hESC	embryonic stem cell:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
46	CTCF	chr14:44618920-44619070	RPTEC	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
47	CTCF	chr14:44618860-44619010	WERI-Rb-1	eye:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
48	CTCF	chr14:44618833-44619029	A549	lung:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
49	CTCF	chr14:44618885-44619017	SK-N-SH_RA	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
50	CTCF	chr14:44618900-44619050	Hela-S3	cervix:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958

No.	Distal block	Cell Line	Cell type
1	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:
2	chr14:44370246..44372256-chr14:44617257..44619025,2	MCF-7	breast:
3	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:
4	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
5	chr14:44370633..44373508-chr14:44616084..44618482,2	MCF-7	breast:
6	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
7	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
8	chr14:44569949..44570449-chr8:101630587..101631141,2	MCF-7	breast:
9	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
10	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:
11	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-2	chr14:44518586-44518710	ENSG00000258969
2	lnc-FSCB-6	chr14:44622029-44622354	l_977_chr14:44621312-44622966_testes
3	lnc-FSCB-6	chr14:44622425-44622966	l_977_chr14:44621312-44622966_testes
4	lnc-FSCB-7	chr14:44546737-44547087	NONHSAT036603
5	lnc-FSCB-6	chr14:44621313-44621629	l_977_chr14:44621312-44622966_testes
6	lnc-FSCB-6	chr14:44621821-44621918	l_977_chr14:44621312-44622966_testes

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

Extended variants
information (count: 1490 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1490 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10484236	chr14:44507603-44507604	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372081378	chr14:44507616-44507617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562175932	chr14:44507638-44507639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10484235	chr14:44507655-44507656	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565927129	chr14:44507729-44507730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34660946	chr14:44507732-44507733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559997720	chr14:44507734-44507735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs185346776	chr14:44507748-44507749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548427752	chr14:44507752-44507753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs552148357	chr14:44507766-44507767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376916519	chr14:44507815-44507816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138369617	chr14:44507858-44507859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568426080	chr14:44507870-44507871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs148836835	chr14:44507935-44507936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190212942	chr14:44507952-44507953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145891580	chr14:44508008-44508009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs72680782	chr14:44508020-44508021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534428453	chr14:44508046-44508047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs546382299	chr14:44508085-44508086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs57519376	chr14:44508100-44508101	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62012604	chr14:44508114-44508115	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553079959	chr14:44508127-44508128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185225004	chr14:44508152-44508153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1955968	chr14:44508185-44508186	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555478338	chr14:44508216-44508217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574035811	chr14:44508242-44508243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541579569	chr14:44508249-44508250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569403297	chr14:44508250-44508251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553600215	chr14:44508258-44508259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111498217	chr14:44508273-44508274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs142905929	chr14:44508301-44508302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563981488	chr14:44508311-44508312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541034955	chr14:44508342-44508343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531115736	chr14:44508367-44508368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566121026	chr14:44508375-44508376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146129381	chr14:44508380-44508381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368966289	chr14:44508392-44508393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528189832	chr14:44508417-44508418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs558389585	chr14:44508466-44508467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs12147218	chr14:44508467-44508468	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148315894	chr14:44508469-44508470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141458786	chr14:44508499-44508500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs375122062	chr14:44508502-44508503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs543766989	chr14:44508553-44508554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs190875957	chr14:44508563-44508564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563456675	chr14:44508579-44508580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368062156	chr14:44508602-44508603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74893400	chr14:44508603-44508604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201913003	chr14:44508613-44508614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532377602	chr14:44508629-44508630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Non-syndromic sensorineural hearing loss	18451855	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44507600-44509200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:44508400-44508600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:44508600-44509200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:44510000-44510200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:44514000-44514400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:44526000-44526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:44526600-44527600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:44536200-44536600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:44540200-44540400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:44540400-44541400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:44541400-44542200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:44549800-44550800	Enhancers	Fetal Heart	heart
13	chr14:44572800-44575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:44573400-44573800	Enhancers	Gastric	stomach
15	chr14:44573600-44574000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:44576400-44577000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:44577200-44578600	Enhancers	HMEC	breast
18	chr14:44577400-44578400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:44577400-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:44577600-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:44578000-44578400	Enhancers	NHEK	skin
22	chr14:44578400-44580600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:44578800-44579200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:44582400-44583400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:44582800-44583000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:44585400-44585800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:44590600-44591000	Enhancers	HMEC	breast
28	chr14:44590800-44591400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:44605200-44605600	Active TSS	A549	lung
30	chr14:44606400-44606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:44608400-44609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:44618800-44619000	Enhancers	Pancreas	Pancrea
33	chr14:44620200-44623600	Weak transcription	Pancreas	Pancrea
34	chr14:44623600-44624200	ZNF genes & repeats	Pancreas	Pancrea
35	chr14:44623800-44624200	Enhancers	NHDF-Ad	bronchial
36	chr14:44626800-44627200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:44629600-44630000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:44631400-44631800	Enhancers	HepG2	liver
39	chr14:44631800-44632000	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr14:44631800-44632000	Flanking Active TSS	HepG2	liver
41	chr14:44632000-44635200	Weak transcription	Fetal Intestine Small	intestine
42	chr14:44633200-44633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:44633600-44636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:44634600-44634800	Enhancers	Fetal Lung	lung
45	chr14:44635200-44635600	Enhancers	Fetal Intestine Small	intestine
46	chr14:44635600-44639000	Weak transcription	Fetal Intestine Small	intestine
47	chr14:44636800-44638200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:44639000-44640600	Enhancers	Fetal Intestine Small	intestine
49	chr14:44639400-44640800	Enhancers	Liver	Liver
50	chr14:44639800-44640800	Enhancers	Fetal Intestine Large	intestine

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