Variant report

Variant	nsv901859
Chromosome Location	chr14:46504122-46698056
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	chr14:46688915-46689127	HepG2	liver:	n/a	chr14:46689036-46689047
4	CEBPB	chr14:46658833-46659107	HepG2	liver:	n/a	chr14:46658963-46658974
5	CEBPB	chr14:46688925-46689144	IMR90	lung:	n/a	chr14:46689036-46689047
6	CEBPB	chr14:46624384-46624661	A549	lung:	n/a	n/a
7	CEBPB	chr14:46629835-46630166	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:46629938-46630176	A549	lung:	n/a	n/a
9	CEBPB	chr14:46559949-46560242	HepG2	liver:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
10	CEBPB	chr14:46669191-46669427	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr14:46587638-46587921	HepG2	liver:	n/a	chr14:46587769-46587780
12	CEBPB	chr14:46615814-46615966	K562	blood:	n/a	n/a
13	CEBPB	chr14:46547984-46548190	HepG2	liver:	n/a	chr14:46548062-46548073
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	chr14:46559908-46560222	IMR90	lung:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
16	CEBPB	chr14:46504563-46504826	IMR90	lung:	n/a	chr14:46504676-46504687
17	CEBPB	chr14:46523694-46524102	IMR90	lung:	n/a	n/a
18	CEBPB	chr14:46560063-46560127	K562	blood:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
19	CEBPB	chr14:46624371-46624707	IMR90	lung:	n/a	n/a
20	CEBPB	chr14:46504544-46504822	A549	lung:	n/a	chr14:46504676-46504687
21	CEBPB	chr14:46624367-46624581	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:46624379-46624686	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr14:46504576-46504826	HepG2	liver:	n/a	chr14:46504676-46504687
24	CEBPB	chr14:46673638-46673846	HepG2	liver:	n/a	chr14:46673736-46673749 chr14:46673736-46673747 chr14:46673736-46673749
25	CTCF	chr14:46517430-46517576	Pancreas_OC	pancreas:	n/a	n/a
26	CTCF	chr14:46517520-46517670	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr14:46517420-46517570	HEK293	kidney:	n/a	n/a
28	CTCF	chr14:46516627-46516651	GM13977	blood:	n/a	n/a
29	CTCF	chr14:46517440-46517590	HEK293	kidney:	n/a	n/a
30	CTCF	chr14:46517229-46517791	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:46517327-46517698	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr14:46517402-46517634	A549	lung:	n/a	n/a
33	CTCF	chr14:46517420-46517570	AG10803	skin:	n/a	n/a
34	CTCF	chr14:46517440-46517590	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr14:46510180-46510330	GM12875	blood:	n/a	n/a
36	CTCF	chr14:46517420-46517570	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr14:46517420-46517570	HBMEC	blood vessel:	n/a	n/a
38	CTCF	chr14:46517420-46517570	NHEK	skin:	n/a	n/a
39	CTCF	chr14:46517420-46517570	GM12864	blood:	n/a	n/a
40	CTCF	chr14:46517420-46517570	HepG2	liver:	n/a	n/a
41	CTCF	chr14:46517400-46517550	BE2_C	brain:	n/a	n/a
42	CTCF	chr14:46517380-46517530	AG04450	lung:	n/a	n/a
43	CTCF	chr14:46517440-46517590	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr14:46517420-46517570	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr14:46517303-46517671	T-47D	breast:	n/a	n/a
46	CTCF	chr14:46517420-46517570	HAc	cerebellar:	n/a	n/a
47	CTCF	chr14:46517386-46517678	Fibrobl	skin:	n/a	n/a
48	CTCF	chr14:46517417-46517622	GM12891	blood:	n/a	n/a
49	CTCF	chr14:46517403-46517603	GM13977	blood:	n/a	n/a
50	CTCF	chr14:46517460-46517610	BJ	skin:	n/a	n/a

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

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

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 1023 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575307025	chr14:46505007-46505008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558645542	chr14:46505017-46505018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143553860	chr14:46505020-46505021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113436501	chr14:46505048-46505049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563548304	chr14:46505092-46505093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192623769	chr14:46505166-46505167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143933728	chr14:46505173-46505174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184931355	chr14:46505192-46505193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528522544	chr14:46505204-46505205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187854378	chr14:46505317-46505318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571641201	chr14:46505334-46505335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532670231	chr14:46505350-46505351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148615157	chr14:46505384-46505385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200297668	chr14:46505392-46505393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200127651	chr14:46505404-46505405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7155563	chr14:46505425-46505426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536057201	chr14:46505426-46505427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142037923	chr14:46505431-46505432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192333259	chr14:46505434-46505435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150905118	chr14:46505470-46505471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79355597	chr14:46505503-46505504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6572340	chr14:46505524-46505525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117166679	chr14:46505527-46505528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529379359	chr14:46505533-46505534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575474119	chr14:46505552-46505553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184450144	chr14:46505563-46505564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114305563	chr14:46505566-46505567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528804625	chr14:46505604-46505605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139434015	chr14:46505614-46505615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565291680	chr14:46505686-46505687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532504635	chr14:46505689-46505690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551144360	chr14:46505709-46505710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569366998	chr14:46505733-46505734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529926156	chr14:46505758-46505759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111796832	chr14:46505783-46505784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1957188	chr14:46509206-46509207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139079247	chr14:46509311-46509312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560811857	chr14:46509410-46509411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529526497	chr14:46509443-46509444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541205927	chr14:46509447-46509448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143093059	chr14:46509456-46509457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371169470	chr14:46509461-46509462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146145621	chr14:46509526-46509527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566114602	chr14:46509536-46509537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189800035	chr14:46509543-46509544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557795990	chr14:46509571-46509572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552662787	chr14:46509576-46509577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73232284	chr14:46509590-46509591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7158448	chr14:46509621-46509622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191474565	chr14:46509682-46509683	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46505000-46505800	Enhancers	NHEK	skin
2	chr14:46509200-46509800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:46516600-46518000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:46516800-46517000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:46517000-46517800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:46517000-46517800	Enhancers	NHEK	skin
7	chr14:46517200-46518000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:46517200-46518000	Enhancers	HMEC	breast
9	chr14:46517200-46518400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:46517400-46518000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:46517400-46518000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:46517400-46518000	Enhancers	NH-A	brain
13	chr14:46517400-46518200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr14:46517600-46518000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:46517600-46518000	Enhancers	HUVEC	blood vessel
16	chr14:46517600-46518200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:46517600-46518200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:46517600-46518200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:46517600-46518200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:46517600-46518600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:46517800-46518200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:46517800-46523000	Weak transcription	NHEK	skin
23	chr14:46518000-46521000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:46518000-46523000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:46518000-46523000	Weak transcription	HMEC	breast
26	chr14:46518200-46520200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:46518200-46521000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr14:46520200-46521400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:46521000-46521400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:46521000-46521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:46521000-46521600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:46521600-46523000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:46523000-46524200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:46523000-46524200	Enhancers	HMEC	breast
35	chr14:46523000-46524400	Enhancers	NHEK	skin
36	chr14:46523000-46525000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:46523200-46524400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:46523600-46524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:46523600-46524200	Enhancers	NH-A	brain
40	chr14:46523800-46524200	Enhancers	Fetal Brain Female	brain
41	chr14:46524000-46524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:46524800-46525000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:46527600-46528200	Enhancers	GM12878-XiMat	blood
44	chr14:46528200-46528600	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:46533000-46533600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:46560400-46562200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:46560600-46561400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr14:46563000-46563600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:46576600-46576800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:46581800-46582200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links