Variant report

Variant	esv2761344
Chromosome Location	chr14:46428083-46698317
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	chr14:46559473-46559585	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr14:46517423-46517924	HCT-116	colon:	n/a	n/a
3	CEBPB	chr14:46624367-46624581	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:46441175-46441403	HepG2	liver:	n/a	chr14:46441316-46441327
5	CEBPB	chr14:46504576-46504826	HepG2	liver:	n/a	chr14:46504676-46504687
6	CEBPB	chr14:46560063-46560127	K562	blood:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
7	CEBPB	chr14:46547984-46548190	HepG2	liver:	n/a	chr14:46548062-46548073
8	CEBPB	chr14:46559908-46560222	IMR90	lung:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
9	CEBPB	chr14:46669191-46669427	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr14:46688925-46689144	IMR90	lung:	n/a	chr14:46689036-46689047
11	CEBPB	chr14:46441220-46441420	H1-hESC	embryonic stem cell:	n/a	chr14:46441316-46441327
12	CEBPB	chr14:46523694-46524102	IMR90	lung:	n/a	n/a
13	CEBPB	chr14:46441158-46441496	A549	lung:	n/a	chr14:46441316-46441327
14	CEBPB	chr14:46559920-46560194	A549	lung:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
15	CEBPB	chr14:46587638-46587921	HepG2	liver:	n/a	chr14:46587769-46587780
16	CEBPB	chr14:46504563-46504826	IMR90	lung:	n/a	chr14:46504676-46504687
17	CEBPB	chr14:46629938-46630176	A549	lung:	n/a	n/a
18	CEBPB	chr14:46629835-46630166	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:46477968-46478185	HepG2	liver:	n/a	n/a
20	CEBPB	chr14:46624384-46624661	A549	lung:	n/a	n/a
21	CEBPB	chr14:46624371-46624707	IMR90	lung:	n/a	n/a
22	CEBPB	chr14:46559949-46560242	HepG2	liver:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
23	CEBPB	chr14:46658833-46659107	HepG2	liver:	n/a	chr14:46658963-46658974
24	CEBPB	chr14:46624379-46624686	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr14:46615814-46615966	K562	blood:	n/a	n/a
26	CEBPB	chr14:46504544-46504822	A549	lung:	n/a	chr14:46504676-46504687
27	CEBPB	chr14:46688915-46689127	HepG2	liver:	n/a	chr14:46689036-46689047
28	CEBPB	chr14:46673638-46673846	HepG2	liver:	n/a	chr14:46673736-46673749 chr14:46673736-46673747 chr14:46673736-46673749
29	CTCF	chr14:46592258-46592319	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr14:46517380-46517530	HVMF	connective:	n/a	n/a
31	CTCF	chr14:46677361-46677476	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:46517340-46517490	HPF	lung:	n/a	n/a
33	CTCF	chr14:46517389-46517610	HepG2	liver:	n/a	n/a
34	CTCF	chr14:46517420-46517570	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr14:46445787-46445940	NHEK	skin:	n/a	n/a
36	CTCF	chr14:46459640-46459790	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr14:46517320-46517470	HCM	heart:	n/a	n/a
38	CTCF	chr14:46517400-46517550	GM12878	blood:	n/a	n/a
39	CTCF	chr14:46517368-46517599	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr14:46459360-46459510	WI-38	lung:	n/a	n/a
41	CTCF	chr14:46517406-46517596	GM10266	blood:	n/a	n/a
42	CTCF	chr14:46459580-46459730	GM12873	blood:	n/a	n/a
43	CTCF	chr14:46517380-46517530	GM12864	blood:	n/a	n/a
44	CTCF	chr14:46459600-46459750	BE2_C	brain:	n/a	n/a
45	CTCF	chr14:46517380-46517530	GM12865	blood:	n/a	n/a
46	CTCF	chr14:46459580-46459730	HMF	breast:	n/a	n/a
47	CTCF	chr14:46459660-46459810	GM12878	blood:	n/a	n/a
48	CTCF	chr14:46459620-46459770	AG04450	lung:	n/a	n/a
49	CTCF	chr14:46517420-46517570	RPTEC	kidney:	n/a	n/a
50	CTCF	chr14:46517420-46517570	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:46538407..46539085-chr4:43195045..43195862,2	MCF-7	breast:
2	chr14:46557288..46558270-chr17:53789584..53790485,2	MCF-7	breast:
3	chr14:46517075..46517958-chr14:46813262..46814074,4	MCF-7	breast:
4	chr14:46517458..46517985-chr14:47049934..47050581,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46680027-46680142	ENSG00000258700
2	lnc-FANCM-6	chr14:46680950-46681007	NONHSAT036679
3	lnc-FANCM-6	chr14:46680027-46680142	ENSG00000258700
4	lnc-FANCM-6	chr14:46680950-46681007	ENSG00000258700
5	lnc-FANCM-6	chr14:46533362-46533419	ENSG00000258700
6	lnc-FANCM-6	chr14:46680950-46681007	NONHSAT036678
7	lnc-FANCM-6	chr14:46680027-46680142	NONHSAT036679
8	lnc-FANCM-10	chr14:46483700-46483934	NONHSAT036677
9	lnc-FANCM-6	chr14:46533362-46533419	NONHSAT036679
10	lnc-FANCM-6	chr14:46533362-46533419	NONHSAT036678
11	lnc-FANCM-6	chr14:46680950-46681007	ENSG00000258700
12	lnc-FANCM-6	chr14:46680027-46680142	NONHSAT036678
13	lnc-FANCM-10	chr14:46484296-46484458	NONHSAT036677

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 1908 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1908 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147497837	chr14:46433237-46433238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182403398	chr14:46433238-46433239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572794893	chr14:46433269-46433270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148559587	chr14:46433286-46433287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141914675	chr14:46433310-46433311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150637647	chr14:46433353-46433354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139706049	chr14:46433374-46433375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372616173	chr14:46433397-46433398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10483591	chr14:46433437-46433438	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534645686	chr14:46433484-46433485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375621299	chr14:46433492-46433493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143554879	chr14:46433534-46433535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567903730	chr14:46433540-46433541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186737097	chr14:46433576-46433577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75328407	chr14:46433581-46433582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377762818	chr14:46444600-46444601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530881792	chr14:46444634-46444635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549508968	chr14:46444644-46444645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369744259	chr14:46444681-46444682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569151792	chr14:46444767-46444768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577651488	chr14:46444812-46444813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149868548	chr14:46444821-46444822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571340311	chr14:46444828-46444829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145410913	chr14:46444885-46444886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112232379	chr14:46444906-46444907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574894679	chr14:46444979-46444980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186088534	chr14:46444989-46444990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531570833	chr14:46445005-46445006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570810003	chr14:46445019-46445020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76199298	chr14:46445021-46445022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76670476	chr14:46445022-46445023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112752624	chr14:46445024-46445025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188797350	chr14:46445030-46445031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539927590	chr14:46445077-46445078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73235854	chr14:46445092-46445093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578108441	chr14:46445111-46445112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181247202	chr14:46445112-46445113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551572168	chr14:46445115-46445116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563931452	chr14:46445122-46445123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530944389	chr14:46445134-46445135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542403391	chr14:46445141-46445142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373574559	chr14:46445143-46445144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561246824	chr14:46445200-46445201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117402563	chr14:46445240-46445241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546771438	chr14:46445249-46445250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2093280	chr14:46445317-46445318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs553935949	chr14:46445356-46445357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538407321	chr14:46445384-46445385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146859358	chr14:46445399-46445400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186204664	chr14:46445409-46445410	Enhancers	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46433200-46433600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:46444600-46446200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:46445000-46446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:46479400-46480200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:46480200-46487600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:46481400-46481800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:46483800-46484800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:46484800-46486400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:46486400-46490000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:46487200-46487800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:46487400-46488000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:46487400-46488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:46487400-46489400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:46487600-46487800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:46487600-46488000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:46487600-46488000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:46487600-46488200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:46487600-46488200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:46487800-46488000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:46487800-46488000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:46487800-46489400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:46488000-46488200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:46488000-46489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:46488200-46489400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:46488200-46492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:46489000-46489200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:46489400-46493000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:46490400-46490600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr14:46492400-46492800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr14:46493000-46493200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:46505000-46505800	Enhancers	NHEK	skin
32	chr14:46509200-46509800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:46516600-46518000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:46516800-46517000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr14:46517000-46517800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:46517000-46517800	Enhancers	NHEK	skin
37	chr14:46517200-46518000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:46517200-46518000	Enhancers	HMEC	breast
39	chr14:46517200-46518400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:46517400-46518000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:46517400-46518000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr14:46517400-46518000	Enhancers	NH-A	brain
43	chr14:46517400-46518200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:46517600-46518000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:46517600-46518000	Enhancers	HUVEC	blood vessel
46	chr14:46517600-46518200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:46517600-46518200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:46517600-46518200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:46517600-46518200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:46517600-46518600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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