Variant report

Variant	nsv527074
Chromosome Location	chr14:41758308-41766444
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	CEBPB	chr14:41763615-41763815	HepG2	liver:	n/a	chr14:41763736-41763747
2	CEBPB	chr14:41760922-41761122	A549	lung:	n/a	chr14:41761068-41761079
3	CEBPB	chr14:41760907-41761197	IMR90	lung:	n/a	chr14:41761068-41761079
4	CEBPB	chr14:41763620-41763791	A549	lung:	n/a	chr14:41763736-41763747
5	CEBPB	chr14:41760911-41761210	HepG2	liver:	n/a	chr14:41761068-41761079
6	EP300	chr14:41763750-41763833	HepG2	liver:	n/a	n/a
7	JUN	chr14:41763430-41763616	HepG2	liver:	n/a	chr14:41763498-41763511
8	JUND	chr14:41763429-41763654	HepG2	liver:	n/a	n/a
9	MAFF	chr14:41765006-41765302	HepG2	liver:	n/a	n/a
10	MAFK	chr14:41761912-41762076	HepG2	liver:	n/a	chr14:41761974-41761989
11	MAFK	chr14:41764989-41765302	HepG2	liver:	n/a	n/a
12	MAFK	chr14:41765010-41765279	HepG2	liver:	n/a	n/a
13	MAFK	chr14:41761915-41762131	HepG2	liver:	n/a	chr14:41761974-41761989
14	MYC	chr14:41762376-41762425	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr14:41763972-41764017	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr14:41764713-41764737	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr14:41765342-41765728	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr14:41765306-41765734	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr14:41761058-41761256	MCF10A-Er-Src	breast:	n/a	n/a
20	USF2	chr14:41758240-41758627	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-5	chr14:41765489-41767937	NONHSAT036568

Variant related genes	Relation type
ENSG00000258385	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564979522	chr14:41761014-41761015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532209316	chr14:41761024-41761025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550813600	chr14:41761056-41761057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569435416	chr14:41761073-41761074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530023063	chr14:41761114-41761115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575882993	chr14:41761138-41761139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539928150	chr14:41761235-41761236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548455059	chr14:41761241-41761242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570474070	chr14:41761913-41761914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs114294237	chr14:41761914-41761915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549861958	chr14:41761931-41761932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568345080	chr14:41761935-41761936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536033937	chr14:41761940-41761941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554041816	chr14:41761947-41761948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572718861	chr14:41761981-41761982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539694853	chr14:41762007-41762008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558593638	chr14:41762019-41762020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532794651	chr14:41762024-41762025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181834777	chr14:41762053-41762054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185191954	chr14:41762101-41762102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1652926	chr14:41762112-41762113	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190776260	chr14:41762113-41762114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73625310	chr14:41762379-41762380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183422809	chr14:41762412-41762413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535548178	chr14:41762413-41762414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs183110684	chr14:41762878-41762879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564025079	chr14:41762900-41762901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558352717	chr14:41762933-41762934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565932161	chr14:41762935-41762936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368266615	chr14:41762939-41762940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76096837	chr14:41763028-41763029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543436184	chr14:41763029-41763030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150873086	chr14:41763032-41763033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201325384	chr14:41763047-41763048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529395036	chr14:41763069-41763070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76312520	chr14:41763079-41763080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75297873	chr14:41763098-41763099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547562958	chr14:41763103-41763104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566307952	chr14:41763117-41763118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80288250	chr14:41763121-41763122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187400953	chr14:41763165-41763166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554900607	chr14:41763204-41763205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552135970	chr14:41763232-41763233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1652923	chr14:41763288-41763289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537711560	chr14:41763298-41763299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375202835	chr14:41763313-41763314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551250887	chr14:41763317-41763318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113248068	chr14:41763327-41763328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533404011	chr14:41763373-41763374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535584279	chr14:41763387-41763388	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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41762800-41763600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41764400-41766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:41766200-41767200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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