Variant report

Variant	nsv1038949
Chromosome Location	chr14:81543590-81579896
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	BHLHE40	chr14:81548788-81548800	K562	blood:	n/a	n/a
2	CEBPB	chr14:81575024-81575317	A549	lung:	n/a	chr14:81575171-81575182
3	CEBPB	chr14:81573790-81573835	A549	lung:	n/a	n/a
4	CEBPB	chr14:81567350-81567667	HepG2	liver:	n/a	chr14:81567507-81567518
5	CEBPB	chr14:81575018-81575325	HepG2	liver:	n/a	chr14:81575171-81575182
6	CEBPB	chr14:81567401-81567639	A549	lung:	n/a	chr14:81567507-81567518
7	CEBPB	chr14:81568589-81568916	IMR90	lung:	n/a	chr14:81568758-81568771 chr14:81568758-81568769
8	CEBPB	chr14:81568583-81568918	A549	lung:	n/a	chr14:81568758-81568771 chr14:81568758-81568769
9	CEBPB	chr14:81560160-81560344	HepG2	liver:	n/a	chr14:81560204-81560215
10	CEBPB	chr14:81575032-81575337	IMR90	lung:	n/a	chr14:81575171-81575182
11	CEBPB	chr14:81568592-81568907	HepG2	liver:	n/a	chr14:81568758-81568771 chr14:81568758-81568769
12	CEBPB	chr14:81568692-81568892	H1-hESC	embryonic stem cell:	n/a	chr14:81568758-81568771 chr14:81568758-81568769
13	CEBPB	chr14:81575024-81575329	MCF-7	breast:	n/a	chr14:81575171-81575182
14	CHD2	chr14:81550217-81550360	K562	blood:	n/a	n/a
15	CTCF	chr14:81578048-81578066	LNCaP	prostate:	n/a	chr14:81578058-81578066
16	CTCF	chr14:81558600-81558750	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr14:81579802-81579805	GM13976	blood:	n/a	n/a
18	CTCF	chr14:81578320-81578470	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr14:81567060-81567210	HAc	cerebellar:	n/a	n/a
20	CTCF	chr14:81576726-81576777	Fibrobl	skin:	n/a	n/a
21	CTCF	chr14:81548663-81548721	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr14:81567999-81568047	ProgFib	skin:	n/a	n/a
23	CTCF	chr14:81578369-81578475	Medullo	brain:	n/a	n/a
24	E2F4	chr14:81558811-81558859	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr14:81573834-81573885	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr14:81562561-81562795	HepG2	liver:	n/a	n/a
27	FOSL2	chr14:81548637-81548859	HepG2	liver:	n/a	n/a
28	FOXA1	chr14:81562523-81562822	HepG2	liver:	n/a	n/a
29	FOXA1	chr14:81562336-81563024	HepG2	liver:	n/a	n/a
30	FOXA1	chr14:81562359-81563002	HepG2	liver:	n/a	n/a
31	FOXA2	chr14:81562127-81563155	HepG2	liver:	n/a	n/a
32	FOXA2	chr14:81562435-81562906	A549	lung:	n/a	n/a
33	FOXA2	chr14:81562525-81562840	HepG2	liver:	n/a	n/a
34	GABPA	chr14:81548640-81548790	GM12878	blood:	n/a	n/a
35	GATA2	chr14:81548514-81548713	K562	blood:	n/a	n/a
36	MAFF	chr14:81553584-81553954	HepG2	liver:	n/a	n/a
37	MAFF	chr14:81578897-81579042	HepG2	liver:	n/a	n/a
38	MAFF	chr14:81553606-81553940	K562	blood:	n/a	n/a
39	MAFK	chr14:81549105-81549305	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFK	chr14:81553644-81553902	H1-hESC	embryonic stem cell:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
41	MAFK	chr14:81553608-81553929	K562	blood:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
42	MAFK	chr14:81553550-81554034	GM12878	blood:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
43	MAFK	chr14:81553590-81553952	IMR90	lung:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
44	MAFK	chr14:81578864-81579089	HepG2	liver:	n/a	n/a
45	MAFK	chr14:81553587-81553950	HepG2	liver:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
46	MAFK	chr14:81553568-81553957	HepG2	liver:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
47	MAFK	chr14:81553631-81553913	Hela-S3	cervix:	n/a	chr14:81553688-81553702 chr14:81553689-81553700 chr14:81553690-81553701 chr14:81553690-81553701
48	MAX	chr14:81550249-81550429	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr14:81549291-81549305	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr14:81548543-81548921	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81574238..81576394-chr14:81685477..81688391,2	K562	blood:
2	chr14:81564551..81566339-chr14:81684688..81687460,2	MCF-7	breast:
3	chr14:81536154..81536750-chr14:81547094..81547647,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN3-5	chr14:81574956-81575184	NONHSAT038049
2	lnc-NRXN3-5	chr14:81574693-81574796	NONHSAT038049
3	lnc-GTF2A1-1	chr14:81573377-81573482	ENSG00000258999.1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TSHR	hsa-miR-181a-5p	chr14:81575149-81575171

Variant related genes	Relation type
TSHR	TF binding region
ENSG00000165417	chromatin interactions

Extended variants
information (count: 1404 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149200814	chr14:81543660-81543661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77927049	chr14:81543731-81543732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555569004	chr14:81543753-81543754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566905136	chr14:81543755-81543756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114082600	chr14:81543769-81543770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182494333	chr14:81543778-81543779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143329560	chr14:81543828-81543829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577474073	chr14:81543855-81543856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187734872	chr14:81543870-81543871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192397012	chr14:81543873-81543874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376086941	chr14:81543897-81543898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74453503	chr14:81543904-81543905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527802512	chr14:81543969-81543970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542740751	chr14:81544008-81544009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561558210	chr14:81544051-81544052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531809022	chr14:81544073-81544074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114971435	chr14:81544136-81544137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58396658	chr14:81544162-81544163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs532809027	chr14:81544237-81544238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60257194	chr14:81544268-81544269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150274063	chr14:81544292-81544293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183805708	chr14:81544299-81544300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139397502	chr14:81544318-81544319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35477678	chr14:81544387-81544388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576508654	chr14:81544411-81544412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555164137	chr14:81544461-81544462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567491171	chr14:81544462-81544463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543925566	chr14:81544504-81544505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537658417	chr14:81544550-81544551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116913512	chr14:81544552-81544553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376081780	chr14:81544557-81544558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538510257	chr14:81544559-81544560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113093752	chr14:81544597-81544598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572330048	chr14:81544688-81544689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78630936	chr14:81544719-81544720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192055654	chr14:81544724-81544725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576444239	chr14:81544763-81544764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544036261	chr14:81544769-81544770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114987304	chr14:81544802-81544803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532888948	chr14:81544810-81544811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184498478	chr14:81544818-81544819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529668651	chr14:81544855-81544856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560138010	chr14:81544877-81544878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189236673	chr14:81544910-81544911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138920678	chr14:81544922-81544923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7148874	chr14:81544927-81544928	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368752857	chr14:81545007-81545008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542062255	chr14:81545030-81545031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371777642	chr14:81545037-81545038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567252436	chr14:81545038-81545039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81522600-81545600	Weak transcription	Thymus	Thymus
2	chr14:81537000-81554200	Weak transcription	Fetal Thymus	thymus
3	chr14:81538200-81593000	Weak transcription	Psoas Muscle	Psoas
4	chr14:81543400-81544800	Weak transcription	Dnd41	blood
5	chr14:81544800-81545800	Strong transcription	Dnd41	blood
6	chr14:81545600-81546000	Strong transcription	Thymus	Thymus
7	chr14:81545800-81551000	Weak transcription	Dnd41	blood
8	chr14:81546000-81548600	Weak transcription	Thymus	Thymus
9	chr14:81547000-81552400	Weak transcription	Liver	Liver
10	chr14:81548600-81549000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:81548600-81549000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:81548600-81549200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:81548600-81549600	Strong transcription	Thymus	Thymus
14	chr14:81549000-81552000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:81549000-81572400	Weak transcription	Left Ventricle	heart
16	chr14:81549600-81550800	Weak transcription	Thymus	Thymus
17	chr14:81550600-81561000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:81550800-81551400	Enhancers	Brain Germinal Matrix	brain
19	chr14:81550800-81551800	Strong transcription	Thymus	Thymus
20	chr14:81551000-81556200	Strong transcription	Dnd41	blood
21	chr14:81551600-81551800	Enhancers	K562	blood
22	chr14:81551800-81552200	Enhancers	Fetal Stomach	stomach
23	chr14:81551800-81554000	Weak transcription	Thymus	Thymus
24	chr14:81552000-81552200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:81552000-81552400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:81552400-81555000	Strong transcription	Liver	Liver
27	chr14:81554000-81555000	Strong transcription	Thymus	Thymus
28	chr14:81554200-81554800	Strong transcription	Fetal Thymus	thymus
29	chr14:81554800-81557600	Weak transcription	Fetal Thymus	thymus
30	chr14:81555000-81557400	Weak transcription	Thymus	Thymus
31	chr14:81555000-81557600	Weak transcription	Liver	Liver
32	chr14:81556200-81557000	Weak transcription	Dnd41	blood
33	chr14:81557000-81572800	Strong transcription	Dnd41	blood
34	chr14:81557400-81567600	Strong transcription	Thymus	Thymus
35	chr14:81557600-81558800	Strong transcription	Fetal Thymus	thymus
36	chr14:81557600-81561600	Strong transcription	Liver	Liver
37	chr14:81558200-81560600	Weak transcription	Ovary	ovary
38	chr14:81558400-81558800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:81558800-81564000	Weak transcription	Fetal Thymus	thymus
40	chr14:81561600-81562200	Weak transcription	Liver	Liver
41	chr14:81562000-81563400	Enhancers	HepG2	liver
42	chr14:81562200-81562400	Enhancers	Pancreas	Pancrea
43	chr14:81562200-81563400	Enhancers	Liver	Liver
44	chr14:81562400-81563000	Weak transcription	Pancreas	Pancrea
45	chr14:81563000-81563200	Enhancers	Pancreas	Pancrea
46	chr14:81563400-81564600	Weak transcription	Liver	Liver
47	chr14:81564000-81566400	Strong transcription	Fetal Thymus	thymus
48	chr14:81564600-81566000	Strong transcription	Liver	Liver
49	chr14:81566000-81569800	Weak transcription	Liver	Liver
50	chr14:81566400-81581200	Weak transcription	Fetal Thymus	thymus

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