Variant report

Variant	nsv1029672
Chromosome Location	chr5:29365547-29421257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:29414090-29414343	K562	blood:	n/a	n/a
2	CEBPB	chr5:29391032-29391067	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr5:29387081-29387400	Hela-S3	cervix:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
4	CEBPB	chr5:29387041-29387392	A549	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
5	CEBPB	chr5:29387091-29387291	H1-hESC	embryonic stem cell:	n/a	chr5:29387204-29387215
6	CEBPB	chr5:29387050-29387411	IMR90	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
7	CEBPB	chr5:29387025-29387424	HepG2	liver:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
8	CEBPB	chr5:29386189-29386287	HepG2	liver:	n/a	chr5:29386206-29386217
9	CEBPB	chr5:29413274-29413380	A549	lung:	n/a	chr5:29413367-29413380 chr5:29413367-29413378
10	CEBPB	chr5:29377734-29377818	HepG2	liver:	n/a	chr5:29377787-29377800 chr5:29377787-29377800 chr5:29377787-29377798 chr5:29377787-29377798 chr5:29377788-29377799
11	CEBPB	chr5:29390980-29391087	K562	blood:	n/a	chr5:29391028-29391039
12	CEBPB	chr5:29390959-29391192	HepG2	liver:	n/a	chr5:29391028-29391039
13	CHD2	chr5:29382929-29383024	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr5:29367640-29367790	HepG2	liver:	n/a	n/a
15	CTCF	chr5:29367647-29367774	Gliobla	brain:	n/a	n/a
16	CTCF	chr5:29379653-29379708	GM13976	blood:	n/a	n/a
17	CTCF	chr5:29367587-29367852	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:29367494-29367983	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:29367600-29367750	K562	blood:	n/a	n/a
20	CTCF	chr5:29367601-29367832	MCF-7	breast:	n/a	n/a
21	CTCF	chr5:29367640-29367790	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr5:29367645-29367735	GM20000	blood:	n/a	n/a
23	CTCF	chr5:29367516-29367907	GM12878	blood:	n/a	n/a
24	CTCF	chr5:29367659-29367780	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr5:29367658-29367787	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:29367568-29367836	T-47D	breast:	n/a	n/a
27	CTCF	chr5:29367680-29367830	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr5:29367630-29367798	HepG2	liver:	n/a	n/a
29	CTCF	chr5:29367627-29367807	Medullo	brain:	n/a	n/a
30	CTCF	chr5:29367463-29367937	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:29367660-29367810	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr5:29367644-29367807	K562	blood:	n/a	n/a
33	CTCF	chr5:29367624-29367799	HepG2	liver:	n/a	n/a
34	CTCF	chr5:29367680-29367830	NB4	blood:	n/a	n/a
35	CTCF	chr5:29367620-29367770	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:29367612-29367792	LNCaP	prostate:	n/a	n/a
37	CTCF	chr5:29367680-29367830	GM12866	blood:	n/a	n/a
38	CTCF	chr5:29367600-29367750	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr5:29418998-29419090	GM13976	blood:	n/a	n/a
40	CTCF	chr5:29367620-29367770	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr5:29409126-29409166	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr5:29379647-29379652	GM13976	blood:	n/a	n/a
43	CTCF	chr5:29367617-29367802	LNCaP	prostate:	n/a	n/a
44	CTCF	chr5:29367660-29367810	HAc	cerebellar:	n/a	n/a
45	CTCF	chr5:29397806-29397832	GM20000	blood:	n/a	n/a
46	CTCF	chr5:29367540-29367690	HRE	kidney:	n/a	n/a
47	CTCF	chr5:29367640-29367790	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:29367665-29367766	GM12878	blood:	n/a	n/a
49	CTCF	chr5:29367600-29367750	HepG2	liver:	n/a	n/a
50	CTCF	chr5:29367660-29367810	RPTEC	kidney:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:29394432..29396496-chr5:29400311..29402057,2	MCF-7	breast:
2	chr5:29374107..29376875-chr5:29377791..29380634,2	K562	blood:
3	chr5:29367148..29368248-chr5:29697562..29698574,8	MCF-7	breast:
4	chr5:29367263..29368784-chr5:29811787..29812627,6	MCF-7	breast:
5	chr5:29367229..29368191-chr5:29697633..29698544,4	MCF-7	breast:
6	chr5:29374107..29376875-chr5:29377791..29380634,2	K562	blood:
7	chr5:29367557..29368187-chr5:29811640..29812581,2	MCF-7	breast:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-7	chr5:29381960-29382069	NR_104628
2	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
3	lnc-DROSHA-7	chr5:29384427-29384499	NR_104628
4	lnc-DROSHA-12	chr5:29420161-29420256	l_2897_chr5:29390052-29431912_testes
5	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
6	lnc-DROSHA-7	chr5:29389918-29390047	XLOC_004765
7	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
8	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
9	lnc-DROSHA-12	chr5:29391719-29391826	l_2897_chr5:29390052-29431912_testes
10	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
11	lnc-DROSHA-12	chr5:29417717-29417826	l_2897_chr5:29390052-29431912_testes
12	lnc-DROSHA-7	chr5:29380403-29380432	XLOC_004765
13	lnc-DROSHA-7	chr5:29389918-29390046	NR_104628
14	lnc-DROSHA-7	chr5:29395961-29396088	XLOC_004765
15	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
16	lnc-DROSHA-12	chr5:29415951-29416189	l_2897_chr5:29390052-29431912_testes
17	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
18	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
19	lnc-DROSHA-7	chr5:29380196-29380432	NR_104628
20	lnc-DROSHA-12	chr5:29390053-29390256	l_2897_chr5:29390052-29431912_testes
21	lnc-DROSHA-7	chr5:29383211-29383410	XLOC_004765
22	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
23	lnc-DROSHA-12	chr5:29399178-29399246	l_2897_chr5:29390052-29431912_testes
24	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
25	lnc-DROSHA-7	chr5:29380373-29380432	XLOC_004765
26	lnc-DROSHA-7	chr5:29389918-29390046	XLOC_004765
27	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
28	lnc-DROSHA-7	chr5:29395961-29396083	NR_104628

No data

Variant related genes	Relation type
ENSG00000248391	TF binding region
ENSG00000248391	chromatin interactions
FMNL2	miRNA target sites
AGK	miRNA target sites
AGXT2L1	miRNA target sites
AGL	miRNA target sites
AHCTF1	miRNA target sites
SGMS1	miRNA target sites
SERPINB2	miRNA target sites
AGPAT3	miRNA target sites

Extended variants
information (count: 387 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147609761	chr5:29367412-29367413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368562737	chr5:29367423-29367424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7717754	chr5:29367435-29367436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187327459	chr5:29367445-29367446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7717780	chr5:29367474-29367475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs71621784	chr5:29367480-29367481	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542483511	chr5:29367497-29367498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11956788	chr5:29367501-29367502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536515886	chr5:29367509-29367510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543214021	chr5:29367512-29367513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543283733	chr5:29367528-29367529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191694106	chr5:29367560-29367561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182931262	chr5:29367562-29367563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150668496	chr5:29367563-29367564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375894084	chr5:29367565-29367566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547503811	chr5:29367594-29367595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147067157	chr5:29367599-29367600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145232668	chr5:29367606-29367607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529736831	chr5:29367626-29367627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149139458	chr5:29367644-29367645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567971186	chr5:29367647-29367648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17617805	chr5:29367711-29367712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554952035	chr5:29367817-29367818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187473782	chr5:29367850-29367851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12520476	chr5:29367876-29367877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554260278	chr5:29367914-29367915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376575653	chr5:29367951-29367952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115247645	chr5:29367994-29367995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536254571	chr5:29368005-29368006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554394521	chr5:29368007-29368008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16898904	chr5:29368024-29368025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
32	rs573112739	chr5:29368045-29368046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193260141	chr5:29368075-29368076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185376431	chr5:29368120-29368121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540741718	chr5:29368129-29368130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559414304	chr5:29368147-29368148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540761462	chr5:29368177-29368178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541850148	chr5:29368181-29368182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369637022	chr5:29368186-29368187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527706800	chr5:29368193-29368194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536439176	chr5:29380228-29380229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs554516598	chr5:29380266-29380267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs368815131	chr5:29380287-29380288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs537214527	chr5:29380295-29380296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs576068287	chr5:29380325-29380326	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs78282122	chr5:29380331-29380332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs182202391	chr5:29380336-29380337	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs114039470	chr5:29380349-29380350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs187393684	chr5:29380390-29380391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs146335616	chr5:29381967-29381968	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29367400-29367800	Enhancers	Brain Cingulate Gyrus	brain
2	chr5:29367400-29368000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:29367400-29368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:29382600-29383200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:29382600-29383200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:29383000-29383400	Active TSS	HepG2	liver
7	chr5:29408200-29408400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:29408400-29410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:29410800-29411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:29417600-29418000	Enhancers	Fetal Brain Male	brain
11	chr5:29417600-29418000	Enhancers	Psoas Muscle	Psoas

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