Variant report

Variant	nsv564572
Chromosome Location	chr14:42971788-43083557
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	BATF	chr14:42992903-42993204	GM12878	blood:	n/a	n/a
2	BCL11A	chr14:42992865-42993250	GM12878	blood:	n/a	n/a
3	BRCA1	chr14:43010506-43011087	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:42973793-42973878	K562	blood:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
5	CEBPB	chr14:43057650-43057809	HepG2	liver:	n/a	chr14:43057739-43057750
6	CEBPB	chr14:43071917-43072221	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:43058980-43059253	A549	lung:	n/a	chr14:43059110-43059121
8	CEBPB	chr14:43006767-43007104	HepG2	liver:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
9	CEBPB	chr14:43081131-43081221	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr14:43010664-43011294	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:42973675-42974008	IMR90	lung:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
12	CEBPB	chr14:42973667-42974028	HepG2	liver:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
13	CEBPB	chr14:43006799-43007063	IMR90	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
14	CEBPB	chr14:42973656-42974004	Hela-S3	cervix:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
15	CEBPB	chr14:42973693-42973995	A549	lung:	n/a	chr14:42973833-42973846 chr14:42973851-42973862 chr14:42973834-42973845 chr14:42973849-42973860 chr14:42973851-42973860
16	CEBPB	chr14:43020465-43020677	HepG2	liver:	n/a	chr14:43020529-43020540
17	CEBPB	chr14:43045458-43045742	HepG2	liver:	n/a	chr14:43045602-43045613
18	CEBPB	chr14:43009532-43009798	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:43058937-43059272	HepG2	liver:	n/a	chr14:43059110-43059121
20	CEBPB	chr14:43006817-43007048	A549	lung:	n/a	chr14:43006914-43006925 chr14:43006916-43006925
21	CEBPB	chr14:42995827-42996065	HepG2	liver:	n/a	chr14:42995926-42995937 chr14:42995924-42995935
22	CHD2	chr14:43040531-43040693	HepG2	liver:	n/a	n/a
23	CTCF	chr14:43004773-43004858	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:43041340-43041490	A549	lung:	n/a	n/a
25	CTCF	chr14:43031960-43032110	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr14:43004729-43004887	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:43026528-43026584	GM10248	blood:	n/a	n/a
28	CTCF	chr14:43033880-43034030	HCT-116	colon:	n/a	n/a
29	CTCF	chr14:43004731-43004911	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr14:43004680-43004830	A549	lung:	n/a	n/a
31	CTCF	chr14:43004711-43004885	Gliobla	brain:	n/a	n/a
32	CTCF	chr14:43041371-43041426	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr14:43033840-43033990	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:42992956-42993121	GM12878	blood:	n/a	n/a
35	CTCF	chr14:43004700-43004850	GM12874	blood:	n/a	n/a
36	CTCF	chr14:43033880-43034030	AG10803	skin:	n/a	n/a
37	CTCF	chr14:43033900-43034050	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr14:43004686-43004900	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr14:43004640-43004790	HVMF	connective:	n/a	n/a
40	CTCF	chr14:43033883-43034024	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:43032000-43032150	HPF	lung:	n/a	n/a
42	CTCF	chr14:43049320-43049470	AG10803	skin:	n/a	n/a
43	CTCF	chr14:43033920-43034070	HPF	lung:	n/a	n/a
44	CTCF	chr14:43031960-43032110	HEK293	kidney:	n/a	n/a
45	CTCF	chr14:43033740-43033890	HCT-116	colon:	n/a	n/a
46	CTCF	chr14:43004796-43004819	GM12891	blood:	n/a	n/a
47	CTCF	chr14:43033840-43033990	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr14:43031940-43032090	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr14:43033880-43034030	A549	lung:	n/a	n/a
50	CTCF	chr14:43004778-43004868	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:
2	chr14:43030553..43031053-chr17:8338863..8339416,2	Hela-S3	cervix:
3	chr14:42579463..42579970-chr14:43055430..43056355,2	MCF-7	breast:
4	chr14:43055616..43058571-chr14:43062767..43065185,2	MCF-7	breast:
5	chr14:43055616..43058571-chr14:43062767..43065185,2	MCF-7	breast:
6	chr14:42995581..42997108-chr14:42999086..43001857,2	K562	blood:
7	chr14:43078769..43080628-chr14:43081211..43084199,2	MCF-7	breast:
8	chr14:43078769..43080628-chr14:43081211..43084199,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-2	chr14:42998014-42998060	NONHSAT036588
2	lnc-RP11-214N1.1.1-3	chr14:43078071-43078780	NONHSAT036591
3	lnc-RP11-214N1.1.1-2	chr14:42972301-42972709	NONHSAT036588
4	lnc-RP11-214N1.1.1-2	chr14:42997872-42998091	ENSG00000258850.1
5	lnc-RP11-214N1.1.1-2	chr14:42997872-42998001	NONHSAT036588

Variant related genes	Relation type
ENSG00000258505	TF binding region
ENSG00000166579	chromatin interactions

Extended variants
information (count: 2116 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2116 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144885207	chr14:42972340-42972341	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563265691	chr14:42972362-42972363	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575132010	chr14:42972391-42972392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs555691205	chr14:42972455-42972456	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs560016389	chr14:42972458-42972459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs192658721	chr14:42972482-42972483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs115940018	chr14:42972512-42972513	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs148271974	chr14:42972532-42972533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs140133638	chr14:42972533-42972534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs567948535	chr14:42972534-42972535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs565223874	chr14:42972571-42972572	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs184368982	chr14:42972580-42972581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs10148730	chr14:42972583-42972584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs68152636	chr14:42972598-42972599	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200068216	chr14:42972607-42972608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150292695	chr14:42972632-42972633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs550222903	chr14:42972671-42972672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs61992749	chr14:42972701-42972702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs551730060	chr14:42977003-42977004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571122357	chr14:42977007-42977008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150452300	chr14:42977013-42977014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71442531	chr14:42977016-42977017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541055557	chr14:42977033-42977034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375799867	chr14:42977057-42977058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138255415	chr14:42977069-42977070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113541497	chr14:42977072-42977073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563859584	chr14:42977076-42977077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531051079	chr14:42977094-42977095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553615001	chr14:42977149-42977150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149643919	chr14:42977155-42977156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190994864	chr14:42977165-42977166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534681932	chr14:42977168-42977169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546554058	chr14:42977220-42977221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571573212	chr14:42977229-42977230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181707921	chr14:42977243-42977244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557186012	chr14:42977261-42977262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2133492	chr14:42977270-42977271	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537290717	chr14:42977292-42977293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555679550	chr14:42977299-42977300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148717389	chr14:42977332-42977333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541354958	chr14:42977335-42977336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187127112	chr14:42977360-42977361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577570563	chr14:42977374-42977375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545076068	chr14:42977375-42977376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144399519	chr14:42977393-42977394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4309301	chr14:42977428-42977429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs8005118	chr14:42977432-42977433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191007271	chr14:42977459-42977460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61992751	chr14:42977529-42977530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528731690	chr14:42977547-42977548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Burkitt''s lymphoma	19759907	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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42977000-42977200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr14:42977000-42977200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:42977200-42977400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:42977200-42977800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:42977400-42977600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:42977400-42978000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:42977400-42978000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:42977400-42978000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:42977600-42978200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:42977800-42978400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:42978000-42978600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:42978000-42982200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:42978000-42983000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:42978200-42978400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr14:42978200-42981400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:42978400-42979200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:42981400-42981600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:42981600-42982000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:42982000-42984600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:42982200-42984200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:42982400-42984000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:42982400-42984200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:42982600-42983000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:42982600-42983600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr14:42982600-42984000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:42982800-42983400	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:42982800-42984800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:42983000-42983400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:42983000-42983400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr14:42983000-42984200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:42983400-42984000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:42983400-42987200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:42984200-42987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:42987200-42987600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:42987200-42987600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:42987200-42987800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:42987600-42992800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:42987800-42988000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr14:42988000-42991400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:42992200-42994800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:42992800-42993200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:42992800-42993200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:42992800-42993200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:42992800-42993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:42992800-42993200	Enhancers	Brain Anterior Caudate	brain
46	chr14:42992800-42993400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr14:42992800-42993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:42993000-42993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:42993000-42993200	Enhancers	Brain Substantia Nigra	brain
50	chr14:42993000-42993200	Enhancers	Duodenum Smooth Muscle	Duodenum

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