Variant report

Variant	nsv901823
Chromosome Location	chr14:44514622-44716667
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	BCL11A	chr14:44673306-44673565	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr14:44618833-44619126	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr14:44560924-44561243	H1-hESC	embryonic stem cell:	n/a	chr14:44561060-44561071
5	CEBPB	chr14:44599875-44600120	HepG2	liver:	n/a	chr14:44599949-44599960
6	CEBPB	chr14:44633192-44633496	Hela-S3	cervix:	n/a	chr14:44633351-44633362
7	CEBPB	chr14:44606767-44606976	H1-hESC	embryonic stem cell:	n/a	chr14:44606862-44606873
8	CEBPB	chr14:44657629-44657829	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr14:44582232-44582510	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr14:44618834-44619117	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr14:44633186-44633505	HepG2	liver:	n/a	chr14:44633351-44633362
12	CEBPB	chr14:44560929-44561184	K562	blood:	n/a	chr14:44561060-44561071
13	CEBPB	chr14:44572581-44572713	HepG2	liver:	n/a	chr14:44572646-44572657 chr14:44572645-44572658
14	CEBPB	chr14:44605865-44606139	A549	lung:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
15	CEBPB	chr14:44560981-44561240	A549	lung:	n/a	chr14:44561060-44561071
16	CEBPB	chr14:44675596-44675858	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr14:44595881-44596093	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:44599593-44600126	A549	lung:	n/a	chr14:44599949-44599960
19	CEBPB	chr14:44595859-44595978	A549	lung:	n/a	n/a
20	CEBPB	chr14:44606738-44606986	HepG2	liver:	n/a	chr14:44606862-44606873
21	CEBPB	chr14:44560911-44561241	HepG2	liver:	n/a	chr14:44561060-44561071
22	CEBPB	chr14:44605817-44606143	HepG2	liver:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
23	CEBPB	chr14:44560911-44561219	IMR90	lung:	n/a	chr14:44561060-44561071
24	CEBPB	chr14:44605796-44606154	Hela-S3	cervix:	n/a	chr14:44605990-44606001 chr14:44605988-44606001 chr14:44605988-44605999 chr14:44605990-44606001
25	CEBPB	chr14:44675063-44675294	HepG2	liver:	n/a	chr14:44675185-44675198 chr14:44675185-44675198 chr14:44675186-44675197 chr14:44675185-44675196
26	CEBPB	chr14:44541354-44541571	HepG2	liver:	n/a	chr14:44541425-44541436
27	CHD2	chr14:44618838-44619102	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:44618652-44619109	T-47D	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
29	CTCF	chr14:44618880-44619030	HBMEC	blood vessel:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
30	CTCF	chr14:44618784-44619112	GM12878	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
31	CTCF	chr14:44573591-44573608	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:44618829-44619069	MCF-7	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
33	CTCF	chr14:44618826-44619099	Gliobla	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
34	CTCF	chr14:44618920-44619070	RPTEC	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
35	CTCF	chr14:44587140-44587290	HRE	kidney:	n/a	n/a
36	CTCF	chr14:44631579-44631629	MCF-7	breast:	n/a	n/a
37	CTCF	chr14:44618777-44619087	HepG2	liver:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
38	CTCF	chr14:44618813-44619071	Medullo	brain:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
39	CTCF	chr14:44618920-44619070	NB4	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
40	CTCF	chr14:44618900-44619050	HMEC	breast:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
41	CTCF	chr14:44618840-44618990	RPTEC	kidney:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
42	CTCF	chr14:44618900-44619050	GM12869	blood:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
43	CTCF	chr14:44618860-44619061	Hela-S3	cervix:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
44	CTCF	chr14:44618920-44619070	HVMF	connective:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
45	CTCF	chr14:44618673-44619148	HepG2	liver:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
46	CTCF	chr14:44618877-44619053	NHEK	skin:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
47	CTCF	chr14:44546655-44546739	GM10248	blood:	n/a	n/a
48	CTCF	chr14:44618880-44619030	HEEpiC	esophagus:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
49	CTCF	chr14:44618844-44619071	HepG2	liver:	n/a	chr14:44618936-44618957 chr14:44618941-44618959 chr14:44618942-44618958
50	CTCF	chr14:44618860-44619010	GM12867	blood:	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	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:
3	chr14:44370633..44373508-chr14:44616084..44618482,2	MCF-7	breast:
4	chr14:44600217..44602036-chr14:44604194..44606588,2	K562	blood:
5	chr14:44562970..44563903-chr14:44618440..44619350,3	MCF-7	breast:
6	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
7	chr14:44569949..44570449-chr8:101630587..101631141,2	MCF-7	breast:
8	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:
9	chr14:44370246..44372256-chr14:44617257..44619025,2	MCF-7	breast:
10	chr14:44606810..44610792-chr14:44612494..44615788,3	K562	blood:
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	chr14:44621313-44621629	l_977_chr14:44621312-44622966_testes
3	lnc-FSCB-6	chr14:44621821-44621918	l_977_chr14:44621312-44622966_testes
4	lnc-FSCB-6	chr14:44622425-44622966	l_977_chr14:44621312-44622966_testes
5	lnc-FSCB-7	chr14:44546737-44547087	NONHSAT036603
6	lnc-FSCB-6	chr14:44622029-44622354	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: 1658 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1658 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547416790	chr14:44518598-44518599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs145852298	chr14:44518624-44518625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532928253	chr14:44518651-44518652	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs551552396	chr14:44518656-44518657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569781139	chr14:44518667-44518668	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs149011716	chr14:44518670-44518671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs78799957	chr14:44526001-44526002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115022478	chr14:44526040-44526041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116670351	chr14:44526097-44526098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17243537	chr14:44526111-44526112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141634207	chr14:44526196-44526197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534861916	chr14:44526609-44526610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552981859	chr14:44526637-44526638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188537225	chr14:44526655-44526656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544739078	chr14:44526662-44526663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573055346	chr14:44526677-44526678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375363645	chr14:44526683-44526684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530592582	chr14:44526740-44526741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181044260	chr14:44526750-44526751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200141592	chr14:44526763-44526764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141045014	chr14:44526774-44526775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528433498	chr14:44526829-44526830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547657421	chr14:44526880-44526881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17114684	chr14:44526921-44526922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566097066	chr14:44526923-44526924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144787061	chr14:44526929-44526930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551876317	chr14:44526953-44526954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570168245	chr14:44526996-44526997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537603168	chr14:44527014-44527015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555970502	chr14:44527043-44527044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567863354	chr14:44527070-44527071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535356855	chr14:44527082-44527083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568351070	chr14:44527087-44527088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185515140	chr14:44527109-44527110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12896482	chr14:44527268-44527269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544626931	chr14:44527358-44527359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556597482	chr14:44527360-44527361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188027068	chr14:44527382-44527383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77732405	chr14:44527423-44527424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561164338	chr14:44527426-44527427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576852737	chr14:44527431-44527432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147925657	chr14:44527476-44527477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540483613	chr14:44527502-44527503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565197815	chr14:44527506-44527507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139372487	chr14:44527510-44527511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575903528	chr14:44527512-44527513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551810552	chr14:44527545-44527546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570155877	chr14:44527556-44527557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62012635	chr14:44527566-44527567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180962742	chr14:44527586-44527587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44526000-44526200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:44526600-44527600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:44536200-44536600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:44540200-44540400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:44540400-44541400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:44541400-44542200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr14:44549800-44550800	Enhancers	Fetal Heart	heart
8	chr14:44572800-44575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:44573400-44573800	Enhancers	Gastric	stomach
10	chr14:44573600-44574000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:44576400-44577000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:44577200-44578600	Enhancers	HMEC	breast
13	chr14:44577400-44578400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:44577400-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:44577600-44578600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:44578000-44578400	Enhancers	NHEK	skin
17	chr14:44578400-44580600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:44578800-44579200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:44582400-44583400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:44582800-44583000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:44585400-44585800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:44590600-44591000	Enhancers	HMEC	breast
23	chr14:44590800-44591400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:44605200-44605600	Active TSS	A549	lung
25	chr14:44606400-44606800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:44608400-44609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:44618800-44619000	Enhancers	Pancreas	Pancrea
28	chr14:44620200-44623600	Weak transcription	Pancreas	Pancrea
29	chr14:44623600-44624200	ZNF genes & repeats	Pancreas	Pancrea
30	chr14:44623800-44624200	Enhancers	NHDF-Ad	bronchial
31	chr14:44626800-44627200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:44629600-44630000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:44631400-44631800	Enhancers	HepG2	liver
34	chr14:44631800-44632000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr14:44631800-44632000	Flanking Active TSS	HepG2	liver
36	chr14:44632000-44635200	Weak transcription	Fetal Intestine Small	intestine
37	chr14:44633200-44633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:44633600-44636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:44634600-44634800	Enhancers	Fetal Lung	lung
40	chr14:44635200-44635600	Enhancers	Fetal Intestine Small	intestine
41	chr14:44635600-44639000	Weak transcription	Fetal Intestine Small	intestine
42	chr14:44636800-44638200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:44639000-44640600	Enhancers	Fetal Intestine Small	intestine
44	chr14:44639400-44640800	Enhancers	Liver	Liver
45	chr14:44639800-44640800	Enhancers	Fetal Intestine Large	intestine
46	chr14:44649800-44650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:44650200-44650600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:44650200-44650800	Enhancers	Fetal Lung	lung
49	chr14:44660600-44661800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:44661200-44661600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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