Variant report

Variant	esv17934
Chromosome Location	chr5:29390842-29396460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:29390959-29391192	HepG2	liver:	n/a	chr5:29391028-29391039
2	CEBPB	chr5:29391032-29391067	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:29390980-29391087	K562	blood:	n/a	chr5:29391028-29391039
4	CTCF	chr5:29394960-29394991	GM10266	blood:	n/a	n/a
5	USF2	chr5:29394776-29394962	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
2	lnc-DROSHA-12	chr5:29391719-29391826	l_2897_chr5:29390052-29431912_testes
3	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
4	lnc-DROSHA-7	chr5:29395961-29396088	XLOC_004765
5	lnc-DROSHA-7	chr5:29395961-29396083	NR_104628
6	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765

No data

Variant related genes	Relation type
ENSG00000248391	TF binding region
AHCTF1	miRNA target sites
FMNL2	miRNA target sites

Extended variants
information (count: 36 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12521070	chr5:29390973-29390974	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555084841	chr5:29391008-29391009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs386686697	chr5:29391010-29391011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs76048060	chr5:29391011-29391012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562956468	chr5:29391016-29391017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368533309	chr5:29391017-29391018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533293715	chr5:29391018-29391019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs551587887	chr5:29391020-29391021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566820480	chr5:29391027-29391028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs527670979	chr5:29391074-29391075	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs145532906	chr5:29391078-29391079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201850076	chr5:29391097-29391098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10043384	chr5:29391116-29391117	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559989841	chr5:29391144-29391145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs80342750	chr5:29391724-29391725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs537520106	chr5:29391731-29391732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs140669567	chr5:29391764-29391765	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs75656947	chr5:29391766-29391767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs571168733	chr5:29391775-29391776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs112028877	chr5:29394790-29394791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs6894765	chr5:29394792-29394793	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539366134	chr5:29394848-29394849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs12523417	chr5:29394857-29394858	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572703368	chr5:29394915-29394916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62353194	chr5:29394925-29394926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs12332452	chr5:29394926-29394927	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181164502	chr5:29394955-29394956	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529474511	chr5:29395975-29395976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs530308168	chr5:29396014-29396015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544831567	chr5:29396027-29396028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs183752847	chr5:29396036-29396037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs533500942	chr5:29396057-29396058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs73067961	chr5:29396069-29396070	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566547344	chr5:29396070-29396071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs148030561	chr5:29396087-29396088	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548872330	chr5:29396088-29396089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	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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