Variant report

Variant	nsv823044
Chromosome Location	chr5:29062113-29066980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:29063763-29064005	HepG2	liver:	n/a	n/a
2	MXI1	chr5:29066423-29066517	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFYA	chr5:29065810-29066131	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:29065500-29065560	K562	blood:	n/a	n/a
5	POLR2A	chr5:29066118-29066235	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:29062520-29062527	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29059482..29062466-chr5:29065874..29068673,2	MCF-7	breast:
2	chr5:29059482..29062466-chr5:29065874..29068673,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-3	chr5:29066381-29070363	NR_109948
2	lnc-CDH6-3	chr5:29065351-29065724	ENSG00000249322
3	lnc-CDH6-3	chr5:29066381-29070363	ENSG00000249322
4	lnc-CDH6-3	chr5:29065946-29066069	ENSG00000249322
5	lnc-CDH6-3	chr5:29065351-29065724	NR_109948
6	lnc-CDH6-3	chr5:29065946-29066069	NR_109948

No data

Variant related genes	Relation type
ENSG00000252601	TF binding region
CBFB	miRNA target sites

Extended variants
information (count: 58 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527723385	chr5:29065366-29065367	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs583745	chr5:29065400-29065401	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140657536	chr5:29065408-29065409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs149757887	chr5:29065428-29065429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs549716814	chr5:29065451-29065452	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs571060373	chr5:29065483-29065484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114811844	chr5:29065498-29065499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374592275	chr5:29065527-29065528	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs185328404	chr5:29065529-29065530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs145617790	chr5:29065530-29065531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs368823349	chr5:29065537-29065538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs594842	chr5:29065543-29065544	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554546332	chr5:29065581-29065582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs576065633	chr5:29065582-29065583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs543457748	chr5:29065620-29065621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs555100342	chr5:29065681-29065682	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs189831424	chr5:29065687-29065688	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs578191446	chr5:29065716-29065717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs527984764	chr5:29065814-29065815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs506533	chr5:29065843-29065844	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11742838	chr5:29065852-29065853	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145431116	chr5:29065941-29065942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs596766	chr5:29065948-29065949	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs5866912	chr5:29065958-29065959	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs376443993	chr5:29065961-29065962	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs571126621	chr5:29066014-29066015	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs532210449	chr5:29066029-29066030	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs529572883	chr5:29066038-29066039	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs565684686	chr5:29066092-29066093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs508549	chr5:29066133-29066134	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs597694	chr5:29066146-29066147	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569604568	chr5:29066167-29066168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs509455	chr5:29066220-29066221	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78209750	chr5:29066405-29066406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561150798	chr5:29066424-29066425	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs113140520	chr5:29066440-29066441	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs531699316	chr5:29066497-29066498	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs115159387	chr5:29066498-29066499	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs6899088	chr5:29066509-29066510	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs386686667	chr5:29066523-29066524	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs386686668	chr5:29066537-29066538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113507126	chr5:29066538-29066539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs533948	chr5:29066539-29066540	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs610094	chr5:29066610-29066611	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547734536	chr5:29066626-29066627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs534864	chr5:29066650-29066651	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186171203	chr5:29066685-29066686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs537076316	chr5:29066708-29066709	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs558581715	chr5:29066721-29066722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs2644937	chr5:29066728-29066729	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Bipolar disorder	19114987	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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