Variant report

Variant	nsv821268
Chromosome Location	chr5:29854143-29855882
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	BRCA1	chr5:29854000-29854275	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr5:29853961-29854296	HepG2	liver:	n/a	chr5:29854144-29854155
3	CEBPB	chr5:29853970-29854296	ECC-1	luminal epithelium:	n/a	chr5:29854144-29854155
4	CEBPB	chr5:29853667-29854342	Hela-S3	cervix:	n/a	chr5:29854144-29854155
5	CEBPB	chr5:29853931-29854345	MCF-7	breast:	n/a	chr5:29854144-29854155
6	CEBPB	chr5:29854000-29854297	A549	lung:	n/a	chr5:29854144-29854155
7	CEBPB	chr5:29853910-29854303	MCF-7	breast:	n/a	chr5:29854144-29854155
8	EP300	chr5:29853904-29854311	MCF-7	breast:	n/a	n/a
9	EP300	chr5:29853670-29854325	Hela-S3	cervix:	n/a	n/a
10	FOS	chr5:29853814-29854274	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:29853783-29854198	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr5:29853775-29854337	MCF-7	breast:	n/a	n/a
13	GATA3	chr5:29853762-29854393	MCF-7	breast:	n/a	n/a
14	GATA3	chr5:29853742-29854320	MCF-7	breast:	n/a	n/a
15	GATA3	chr5:29853685-29854434	MCF-7	breast:	n/a	n/a
16	HDAC2	chr5:29853932-29854242	MCF-7	breast:	n/a	chr5:29853967-29853975
17	MAFK	chr5:29854066-29854306	Hela-S3	cervix:	n/a	chr5:29854288-29854302 chr5:29854285-29854305 chr5:29854287-29854303
18	POLR2A	chr5:29855399-29855400	MCF10A-Er-Src	breast:	n/a	n/a
19	RCOR1	chr5:29853884-29854268	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr5:29853966-29854250	Hela-S3	cervix:	n/a	n/a
21	SIN3AK20	chr5:29853731-29854382	MCF-7	breast:	n/a	n/a
22	STAT3	chr5:29853816-29854295	Hela-S3	cervix:	n/a	chr5:29853868-29853879
23	STAT3	chr5:29854110-29854302	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF7L2	chr5:29853712-29854263	Hela-S3	cervix:	n/a	n/a
25	TEAD4	chr5:29853891-29854291	MCF-7	breast:	n/a	n/a
26	ZNF217	chr5:29853780-29854290	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29852340..29854743-chr5:29859491..29862426,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249744	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7724158	chr5:29854154-29854155	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565547022	chr5:29854170-29854171	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs532647758	chr5:29854176-29854177	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs7704413	chr5:29854177-29854178	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76821981	chr5:29854191-29854192	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs367897011	chr5:29854197-29854198	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs371695961	chr5:29854204-29854205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11424263	chr5:29854242-29854243	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs397755815	chr5:29854251-29854252	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs536398965	chr5:29854256-29854257	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566425168	chr5:29854262-29854263	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548621070	chr5:29854280-29854281	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569963676	chr5:29854282-29854283	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs186814727	chr5:29854295-29854296	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558656341	chr5:29854306-29854307	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192025310	chr5:29854348-29854349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534904700	chr5:29854355-29854356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553250877	chr5:29854358-29854359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535395120	chr5:29854382-29854383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13172931	chr5:29854388-29854389	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs13153010	chr5:29854391-29854392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29853800-29854400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:29853800-29854400	Enhancers	Hela-S3	cervix

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