Variant report

Variant	nsv977523
Chromosome Location	chr14:19324243-19342146
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	CTCF	chr14:19341080-19341134	GM20000	blood:	n/a	n/a
2	CTCF	chr14:19327137-19327152	GM20000	blood:	n/a	n/a
3	CTCF	chr14:19326798-19326879	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr14:19336911-19336927	GM20000	blood:	n/a	n/a
5	CTCF	chr14:19330799-19330831	ProgFib	skin:	n/a	n/a
6	CTCF	chr14:19325270-19325281	GM10248	blood:	n/a	n/a
7	JUN	chr14:19341096-19341295	HepG2	liver:	n/a	chr14:19341201-19341210 chr14:19341197-19341210
8	MYC	chr14:19331704-19331755	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:19331195-19331234	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:19341948-19342076	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:19334037-19334130	A549	lung:	n/a	n/a
12	POLR2A	chr14:19327221-19327377	ProgFib	skin:	n/a	n/a
13	POLR2A	chr14:19326801-19326887	ProgFib	skin:	n/a	n/a
14	POLR2A	chr14:19328729-19328744	GM12878	blood:	n/a	n/a
15	POLR2A	chr14:19337468-19337558	A549	lung:	n/a	n/a
16	POLR2A	chr14:19339114-19339224	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR11H12.1-2	chr14:19339405-19339552	NONHSAT035436
2	lnc-OR11H12.1-2	chr14:19340299-19340388	NONHSAT035436
3	lnc-POTEM-10	chr14:19332154-19332599	ENSG00000257959.1
4	lnc-OR11H12.1-2	chr14:19341921-19341993	NONHSAT035436

Variant related genes	Relation type
ENSG00000258367	TF binding region
ENSG00000257721	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539593447	chr14:19332182-19332183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs561033056	chr14:19332252-19332253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557834962	chr14:19332486-19332487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569778895	chr14:19332508-19332509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537067324	chr14:19332522-19332523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555319639	chr14:19332537-19332538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs574285353	chr14:19332581-19332582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs569842234	chr14:19334122-19334123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562859976	chr14:19337474-19337475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200380175	chr14:19337476-19337477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530471953	chr14:19337513-19337514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565664800	chr14:19339183-19339184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532907990	chr14:19339224-19339225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558048246	chr14:19339417-19339418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576302716	chr14:19339418-19339419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs543685890	chr14:19339436-19339437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs562294917	chr14:19339438-19339439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs529023683	chr14:19339504-19339505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs541121515	chr14:19339506-19339507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs113680245	chr14:19339512-19339513	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs559448191	chr14:19339534-19339535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374943822	chr14:19339542-19339543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs190077115	chr14:19339550-19339551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544090426	chr14:19340300-19340301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555735370	chr14:19340332-19340333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574184084	chr14:19340347-19340348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541228290	chr14:19340371-19340372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Breast cancer	21364760	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ependymoma	20639864	CNVD
Williams Syndrome	20824207	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links