Variant report

Variant	nsv880278
Chromosome Location	chr5:29286698-29416226
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	ATF1	chr5:29300805-29300808	K562	blood:	n/a	n/a
2	BRCA1	chr5:29307600-29307906	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr5:29293399-29293591	H1-hESC	embryonic stem cell:	n/a	chr5:29293483-29293494
4	CEBPB	chr5:29351313-29351656	K562	blood:	n/a	chr5:29351485-29351496
5	CEBPB	chr5:29413274-29413380	A549	lung:	n/a	chr5:29413367-29413380 chr5:29413367-29413378
6	CEBPB	chr5:29293313-29293632	IMR90	lung:	n/a	chr5:29293483-29293494
7	CEBPB	chr5:29377734-29377818	HepG2	liver:	n/a	chr5:29377787-29377800 chr5:29377787-29377800 chr5:29377787-29377798 chr5:29377787-29377798 chr5:29377788-29377799
8	CEBPB	chr5:29298016-29298086	A549	lung:	n/a	chr5:29298021-29298032
9	CEBPB	chr5:29387091-29387291	H1-hESC	embryonic stem cell:	n/a	chr5:29387204-29387215
10	CEBPB	chr5:29293365-29293604	A549	lung:	n/a	chr5:29293483-29293494
11	CEBPB	chr5:29351314-29351662	HepG2	liver:	n/a	chr5:29351485-29351496
12	CEBPB	chr5:29387050-29387411	IMR90	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
13	CEBPB	chr5:29351316-29351665	IMR90	lung:	n/a	chr5:29351485-29351496
14	CEBPB	chr5:29386189-29386287	HepG2	liver:	n/a	chr5:29386206-29386217
15	CEBPB	chr5:29304567-29304995	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr5:29337963-29338183	HepG2	liver:	n/a	n/a
17	CEBPB	chr5:29307586-29307932	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:29391032-29391067	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr5:29387041-29387392	A549	lung:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
20	CEBPB	chr5:29351339-29351626	H1-hESC	embryonic stem cell:	n/a	chr5:29351485-29351496
21	CEBPB	chr5:29310295-29310520	Hela-S3	cervix:	n/a	chr5:29310377-29310390 chr5:29310377-29310388
22	CEBPB	chr5:29337911-29338232	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr5:29293312-29293657	K562	blood:	n/a	chr5:29293483-29293494
24	CEBPB	chr5:29390959-29391192	HepG2	liver:	n/a	chr5:29391028-29391039
25	CEBPB	chr5:29293326-29293632	HepG2	liver:	n/a	chr5:29293483-29293494
26	CEBPB	chr5:29311019-29311308	Hela-S3	cervix:	n/a	chr5:29311159-29311176 chr5:29311160-29311173
27	CEBPB	chr5:29387025-29387424	HepG2	liver:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
28	CEBPB	chr5:29390980-29391087	K562	blood:	n/a	chr5:29391028-29391039
29	CEBPB	chr5:29414090-29414343	K562	blood:	n/a	n/a
30	CEBPB	chr5:29337230-29337430	HepG2	liver:	n/a	chr5:29337327-29337338 chr5:29337343-29337354
31	CEBPB	chr5:29351326-29351669	Hela-S3	cervix:	n/a	chr5:29351485-29351496
32	CEBPB	chr5:29293316-29293607	Hela-S3	cervix:	n/a	chr5:29293483-29293494
33	CEBPB	chr5:29337241-29337370	K562	blood:	n/a	chr5:29337327-29337338 chr5:29337343-29337354
34	CEBPB	chr5:29387081-29387400	Hela-S3	cervix:	n/a	chr5:29387309-29387320 chr5:29387204-29387215
35	CEBPB	chr5:29351326-29351657	A549	lung:	n/a	chr5:29351485-29351496
36	CEBPD	chr5:29331864-29332290	K562	blood:	n/a	n/a
37	CHD2	chr5:29382929-29383024	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr5:29367620-29367770	GM12874	blood:	n/a	n/a
39	CTCF	chr5:29367587-29367852	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:29367680-29367830	NB4	blood:	n/a	n/a
41	CTCF	chr5:29379647-29379652	GM13976	blood:	n/a	n/a
42	CTCF	chr5:29367660-29367810	RPTEC	kidney:	n/a	n/a
43	CTCF	chr5:29367640-29367790	HepG2	liver:	n/a	n/a
44	CTCF	chr5:29367600-29367750	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr5:29367600-29367750	K562	blood:	n/a	n/a
46	CTCF	chr5:29367600-29367750	HepG2	liver:	n/a	n/a
47	CTCF	chr5:29397806-29397832	GM20000	blood:	n/a	n/a
48	CTCF	chr5:29367658-29367787	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:29367612-29367792	LNCaP	prostate:	n/a	n/a
50	CTCF	chr5:29367627-29367807	Medullo	brain:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DROSHA-12	chr5:29399178-29399246	l_2897_chr5:29390052-29431912_testes
2	lnc-DROSHA-12	chr5:29390053-29390256	l_2897_chr5:29390052-29431912_testes
3	lnc-DROSHA-7	chr5:29380373-29380432	XLOC_004765
4	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
5	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
6	lnc-DROSHA-7	chr5:29355912-29356069	XLOC_004765
7	lnc-DROSHA-7	chr5:29384427-29384499	NR_104628
8	lnc-DROSHA-7	chr5:29389918-29390046	NR_104628
9	lnc-DROSHA-12	chr5:29391719-29391826	l_2897_chr5:29390052-29431912_testes
10	lnc-DROSHA-7	chr5:29380196-29380432	NR_104628
11	lnc-DROSHA-7	chr5:29381960-29382069	NR_104628
12	lnc-DROSHA-7	chr5:29389918-29390047	XLOC_004765
13	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
14	lnc-DROSHA-7	chr5:29383211-29383410	XLOC_004765
15	lnc-DROSHA-7	chr5:29380403-29380432	XLOC_004765
16	lnc-DROSHA-7	chr5:29389918-29390046	XLOC_004765
17	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
18	lnc-DROSHA-7	chr5:29381960-29382069	XLOC_004765
19	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
20	lnc-DROSHA-7	chr5:29384427-29384499	XLOC_004765
21	lnc-DROSHA-7	chr5:29363459-29363489	XLOC_004765
22	lnc-DROSHA-7	chr5:29384404-29384499	XLOC_004765
23	lnc-DROSHA-7	chr5:29395961-29396088	XLOC_004765
24	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
25	lnc-DROSHA-7	chr5:29395961-29396083	NR_104628
26	lnc-DROSHA-12	chr5:29415951-29416189	l_2897_chr5:29390052-29431912_testes
27	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765
28	lnc-DROSHA-7	chr5:29395961-29396100	XLOC_004765

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

Extended variants
information (count: 740 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189246240	chr5:29295207-29295208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554789667	chr5:29295274-29295275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564935243	chr5:29295281-29295282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191932526	chr5:29295292-29295293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75748174	chr5:29295298-29295299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558902333	chr5:29295329-29295330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183151336	chr5:29295365-29295366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541047435	chr5:29295375-29295376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148081657	chr5:29295393-29295394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529829125	chr5:29295490-29295491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35959951	chr5:29295540-29295541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397884921	chr5:29295541-29295542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142027655	chr5:29295546-29295547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561575605	chr5:29295612-29295613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187440948	chr5:29295615-29295616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549921176	chr5:29295619-29295620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571622280	chr5:29295659-29295660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532646116	chr5:29295661-29295662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115215518	chr5:29295704-29295705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536799932	chr5:29295712-29295713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561439883	chr5:29295716-29295717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530389913	chr5:29295724-29295725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570096884	chr5:29295727-29295728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146158474	chr5:29295736-29295737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139002464	chr5:29295772-29295773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570225309	chr5:29295778-29295779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142144379	chr5:29295787-29295788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534897791	chr5:29295823-29295824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553042408	chr5:29295827-29295828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552389751	chr5:29295828-29295829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6885095	chr5:29295837-29295838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs563246794	chr5:29295846-29295847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575263036	chr5:29295848-29295849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376076856	chr5:29295853-29295854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369428233	chr5:29295854-29295855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139114257	chr5:29295865-29295866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565123836	chr5:29295886-29295887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532708365	chr5:29295887-29295888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369627295	chr5:29295938-29295939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191846580	chr5:29295949-29295950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72745419	chr5:29295952-29295953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530053404	chr5:29295960-29295961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548530847	chr5:29295974-29295975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184014276	chr5:29295977-29295978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554913766	chr5:29295979-29295980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13162134	chr5:29295999-29296000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372012176	chr5:29296026-29296027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192539287	chr5:29296047-29296048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534960682	chr5:29296051-29296052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553306331	chr5:29296086-29296087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29295200-29297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:29296600-29296800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:29304600-29305200	Enhancers	Hela-S3	cervix
4	chr5:29305200-29305600	Weak transcription	Hela-S3	cervix
5	chr5:29305600-29308400	Enhancers	Hela-S3	cervix
6	chr5:29342600-29343400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:29367400-29367800	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:29367400-29368000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:29367400-29368200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:29382600-29383200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:29382600-29383200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:29383000-29383400	Active TSS	HepG2	liver
13	chr5:29408200-29408400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:29408400-29410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:29410800-29411200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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