Variant report

Variant	nsv563537
Chromosome Location	chr14:19140177-19207395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr14:19183485-19183643	GM12878	blood:	n/a	chr14:19183575-19183586
2	BATF	chr14:19183487-19183665	GM12878	blood:	n/a	chr14:19183575-19183586
3	CTCF	chr14:19173703-19173734	GM10266	blood:	n/a	n/a
4	CTCF	chr14:19175853-19175915	GM13976	blood:	n/a	n/a
5	CTCF	chr14:19176193-19176292	Fibrobl	skin:	n/a	n/a
6	CTCF	chr14:19143195-19143284	GM13976	blood:	n/a	n/a
7	CTCF	chr14:19176587-19176636	GM10266	blood:	n/a	n/a
8	CTCF	chr14:19152298-19152363	GM13976	blood:	n/a	n/a
9	CTCF	chr14:19147803-19147821	GM13976	blood:	n/a	n/a
10	CTCF	chr14:19146421-19146451	Lung_OC	lung:	n/a	n/a
11	CTCF	chr14:19173680-19173702	GM10266	blood:	n/a	n/a
12	CTCF	chr14:19183786-19183814	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:19200488-19200538	GM20000	blood:	n/a	n/a
14	CTCF	chr14:19146126-19146239	GM13976	blood:	n/a	n/a
15	CTCF	chr14:19207062-19207079	LNCaP	prostate:	n/a	n/a
16	CTCF	chr14:19194384-19194444	LNCaP	prostate:	n/a	n/a
17	EP300	chr14:19179273-19179476	GM12878	blood:	n/a	n/a
18	EP300	chr14:19179305-19179467	GM12878	blood:	n/a	n/a
19	EP300	chr14:19140487-19140764	GM12878	blood:	n/a	n/a
20	FOSL2	chr14:19193154-19193478	HepG2	liver:	n/a	n/a
21	FOSL2	chr14:19193082-19193384	HepG2	liver:	n/a	n/a
22	FOXA1	chr14:19193137-19193568	HepG2	liver:	n/a	n/a
23	JUND	chr14:19193204-19193347	HepG2	liver:	n/a	n/a
24	JUND	chr14:19193152-19193343	HepG2	liver:	n/a	n/a
25	PBX3	chr14:19179334-19179459	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:19140152-19140457	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:19144845-19145318	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:19153299-19153580	GM12891	blood:	n/a	n/a
29	POLR2A	chr14:19195103-19195120	A549	lung:	n/a	n/a
30	POLR2A	chr14:19149860-19151460	GM12892	blood:	n/a	n/a
31	POLR2A	chr14:19146328-19147091	GM12892	blood:	n/a	n/a
32	POLR2A	chr14:19150621-19151011	GM12891	blood:	n/a	n/a
33	POLR2A	chr14:19199998-19200168	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:19152832-19153240	GM12891	blood:	n/a	n/a
35	POLR2A	chr14:19150064-19150448	GM12892	blood:	n/a	n/a
36	POLR2A	chr14:19145108-19145279	GM12878	blood:	n/a	n/a
37	POLR2A	chr14:19151976-19153753	GM12892	blood:	n/a	n/a
38	POLR2A	chr14:19150050-19150496	GM12891	blood:	n/a	n/a
39	POLR2A	chr14:19153317-19153621	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:19154613-19154957	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:19150595-19151155	GM12892	blood:	n/a	n/a
42	POLR2A	chr14:19140168-19140469	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:19151701-19153750	GM12892	blood:	n/a	n/a
44	POLR2A	chr14:19144861-19145305	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:19144004-19144271	GM12891	blood:	n/a	n/a
46	POLR2A	chr14:19146476-19147240	GM12892	blood:	n/a	n/a
47	POLR2A	chr14:19153259-19153563	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:19150672-19151142	GM12892	blood:	n/a	n/a
49	POLR2A	chr14:19140500-19140739	GM12891	blood:	n/a	n/a
50	POLR2A	chr14:19150064-19150422	GM12891	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR11H12.1-5	chr14:19195252-19195750	NONHSAT035433

No data

Variant related genes	Relation type
ENSG00000257171	TF binding region
ENSG00000257356	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376827105	chr14:19193101-19193102	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs369352247	chr14:19193131-19193132	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs373158522	chr14:19193153-19193154	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs377446751	chr14:19193206-19193207	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs370015465	chr14:19193215-19193216	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs535477544	chr14:19193260-19193261	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs554079647	chr14:19193315-19193316	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs566049355	chr14:19193416-19193417	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs539718097	chr14:19193452-19193453	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs557933974	chr14:19193537-19193538	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs576521635	chr14:19193551-19193552	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs533155196	chr14:19194402-19194403	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551687969	chr14:19194430-19194431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367766488	chr14:19194442-19194443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563675171	chr14:19194994-19194995	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367912872	chr14:19195017-19195018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531115998	chr14:19195032-19195033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372136499	chr14:19195049-19195050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549613752	chr14:19195264-19195265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567900341	chr14:19195296-19195297	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs79292222	chr14:19195326-19195327	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs77761376	chr14:19195327-19195328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs375763763	chr14:19195510-19195511	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs369027091	chr14:19195686-19195687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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