Variant report

Variant	nsv521740
Chromosome Location	chr14:42854423-42910684
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	ATF2	chr14:42890942-42891236	GM12878	blood:	n/a	n/a
2	ATF2	chr14:42898123-42898538	GM12878	blood:	n/a	n/a
3	ATF2	chr14:42898121-42898501	GM12878	blood:	n/a	n/a
4	BATF	chr14:42890928-42891203	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
5	BATF	chr14:42890963-42891282	GM12878	blood:	n/a	chr14:42891116-42891127 chr14:42891154-42891165
6	BATF	chr14:42898158-42898555	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:42898070-42898555	GM12878	blood:	n/a	n/a
8	BCL11A	chr14:42890931-42891249	GM12878	blood:	n/a	n/a
9	BCL11A	chr14:42898127-42898592	GM12878	blood:	n/a	n/a
10	BHLHE40	chr14:42898065-42898516	GM12878	blood:	n/a	n/a
11	CEBPB	chr14:42854827-42854835	HepG2	liver:	n/a	n/a
12	CEBPB	chr14:42898784-42898952	HepG2	liver:	n/a	chr14:42898837-42898848
13	CEBPB	chr14:42868466-42868631	HepG2	liver:	n/a	n/a
14	CHD1	chr14:42898060-42898418	GM12878	blood:	n/a	n/a
15	CHD1	chr14:42861094-42861135	GM12878	blood:	n/a	n/a
16	CHD2	chr14:42898044-42898538	GM12878	blood:	n/a	n/a
17	CTCF	chr14:42902115-42902209	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr14:42857140-42857290	GM12864	blood:	n/a	n/a
19	CTCF	chr14:42900940-42901090	GM12864	blood:	n/a	n/a
20	CUX1	chr14:42860858-42861011	GM12878	blood:	n/a	n/a
21	CUX1	chr14:42891931-42892036	GM12878	blood:	n/a	n/a
22	CUX1	chr14:42859493-42859581	GM12878	blood:	n/a	n/a
23	CUX1	chr14:42898211-42898417	GM12878	blood:	n/a	n/a
24	E2F4	chr14:42875600-42875762	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr14:42889612-42889810	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr14:42869908-42870214	MCF10A-Er-Src	breast:	n/a	n/a
27	EBF1	chr14:42898073-42898448	GM12878	blood:	n/a	chr14:42898226-42898237
28	EBF1	chr14:42870254-42870453	GM12878	blood:	n/a	chr14:42870342-42870352 chr14:42870342-42870353
29	EBF1	chr14:42869979-42870672	GM12878	blood:	n/a	chr14:42870342-42870352 chr14:42870342-42870353
30	EBF1	chr14:42875624-42875814	GM12878	blood:	n/a	chr14:42875734-42875745
31	EBF1	chr14:42891004-42891128	GM12878	blood:	n/a	n/a
32	EBF1	chr14:42898052-42898587	GM12878	blood:	n/a	chr14:42898226-42898237
33	EBF1	chr14:42898153-42898516	GM12878	blood:	n/a	chr14:42898226-42898237
34	EBF1	chr14:42876422-42877030	GM12878	blood:	n/a	n/a
35	EGR1	chr14:42898296-42898492	GM12878	blood:	n/a	chr14:42898406-42898420
36	ELK1	chr14:42898212-42898222	GM12878	blood:	n/a	n/a
37	EP300	chr14:42898174-42898589	GM12878	blood:	n/a	n/a
38	EP300	chr14:42898214-42898474	GM12878	blood:	n/a	n/a
39	EP300	chr14:42898030-42898519	GM12878	blood:	n/a	n/a
40	EP300	chr14:42860641-42860860	GM12878	blood:	n/a	n/a
41	EP300	chr14:42860731-42860926	GM12878	blood:	n/a	n/a
42	FOS	chr14:42882054-42882337	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr14:42890993-42891288	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
44	FOS	chr14:42898782-42898872	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr14:42891046-42891239	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
46	FOS	chr14:42898705-42898981	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr14:42898712-42898891	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:42890958-42891278	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
49	FOS	chr14:42891002-42891282	MCF10A-Er-Src	breast:	n/a	chr14:42891225-42891237
50	FOS	chr14:42882056-42882305	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
2	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:
3	chr14:42871630..42873900-chr14:42876970..42879114,2	MCF-7	breast:
4	chr14:42854900..42857464-chr14:42857634..42860608,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-214N1.1.1-1	chr14:42864148-42864295	ENSG00000258394.1
2	lnc-RP11-214N1.1.1-2	chr14:42881776-42882409	ENSG00000258850.1
3	lnc-RP11-214N1.1.1-2	chr14:42881776-42883030	NONHSAT036588

Variant related genes	Relation type
ENSG00000258850	TF binding region

Extended variants
information (count: 766 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115542924	chr14:42860414-42860415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59818914	chr14:42860424-42860425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201617477	chr14:42860425-42860426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368466536	chr14:42860433-42860434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186565224	chr14:42860443-42860444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547966049	chr14:42860447-42860448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112038680	chr14:42860473-42860474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190626916	chr14:42860481-42860482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116211029	chr14:42860505-42860506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369707102	chr14:42860525-42860526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570285095	chr14:42860566-42860567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536072178	chr14:42860581-42860582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182805788	chr14:42860618-42860619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555521121	chr14:42860623-42860624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574078684	chr14:42860659-42860660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534794111	chr14:42860683-42860684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553509282	chr14:42860725-42860726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566934050	chr14:42860729-42860730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571922800	chr14:42860738-42860739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187776434	chr14:42860760-42860761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549337427	chr14:42860774-42860775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112651255	chr14:42860825-42860826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190809169	chr14:42860831-42860832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77211474	chr14:42860877-42860878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113893972	chr14:42860879-42860880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372294998	chr14:42860909-42860910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543394537	chr14:42860981-42860982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539511083	chr14:42860983-42860984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561574193	chr14:42860996-42860997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12880643	chr14:42861020-42861021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145488427	chr14:42861031-42861032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559958831	chr14:42861032-42861033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533547100	chr14:42861062-42861063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs137998343	chr14:42861067-42861068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183412696	chr14:42861074-42861075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531157545	chr14:42861121-42861122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368766786	chr14:42861125-42861126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567560351	chr14:42861148-42861149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534756954	chr14:42861175-42861176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59730211	chr14:42861189-42861190	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs187261917	chr14:42861192-42861193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539232866	chr14:42861194-42861195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148438429	chr14:42862030-42862031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536838781	chr14:42862038-42862039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549242105	chr14:42862100-42862101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567565550	chr14:42862111-42862112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534921557	chr14:42862120-42862121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1483904	chr14:42862144-42862145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577726213	chr14:42862147-42862148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2626421	chr14:42862177-42862178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	21346763	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42860400-42860800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:42860400-42861200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:42862000-42864000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:42864000-42864200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:42864200-42865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:42865200-42866200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:42868000-42869200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:42881000-42882000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:42890200-42891200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:42890400-42890600	Bivalent/Poised TSS	Gastric	stomach
11	chr14:42890400-42890800	Enhancers	NHEK	skin
12	chr14:42890400-42891000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:42890600-42890800	Active TSS	Gastric	stomach
14	chr14:42891000-42891400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:42891400-42891600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:42891600-42898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:42893800-42894600	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:42894600-42897800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr14:42897800-42899200	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:42898000-42899000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:42898000-42899000	Enhancers	NHEK	skin
22	chr14:42898400-42899200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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