Variant report

Variant	nsv1028333
Chromosome Location	chr5:29000893-29030920
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	chr5:29005496-29006030	K562	blood:	n/a	n/a
2	CCNT2	chr5:29017623-29017823	K562	blood:	n/a	n/a
3	CEBPB	chr5:29005612-29005970	K562	blood:	n/a	chr5:29005787-29005798
4	CEBPB	chr5:29025866-29026131	HepG2	liver:	n/a	chr5:29026021-29026032
5	CEBPB	chr5:29005619-29005973	HepG2	liver:	n/a	chr5:29005787-29005798
6	CEBPB	chr5:29005532-29005991	Hela-S3	cervix:	n/a	chr5:29005787-29005798
7	CEBPB	chr5:29005648-29005964	A549	lung:	n/a	chr5:29005787-29005798
8	CEBPB	chr5:29005633-29005968	IMR90	lung:	n/a	chr5:29005787-29005798
9	CTCF	chr5:29005480-29005630	HA-sp	spinal cord:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
10	CTCF	chr5:29005491-29005670	K562	blood:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
11	CTCF	chr5:29001860-29002010	Caco-2	colon:	n/a	n/a
12	CTCF	chr5:29001889-29002008	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:29016180-29016330	BE2_C	brain:	n/a	n/a
14	CTCF	chr5:29005512-29005653	MCF-7	breast:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
15	CTCF	chr5:29005459-29005697	MCF-7	breast:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
16	CTCF	chr5:29005520-29005670	HepG2	liver:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
17	CTCF	chr5:29001882-29002032	HepG2	liver:	n/a	n/a
18	CTCF	chr5:29016211-29016384	LNCaP	prostate:	n/a	n/a
19	CTCF	chr5:29005460-29005610	BE2_C	brain:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
20	CTCF	chr5:29005598-29005604	GM10248	blood:	n/a	n/a
21	CTCF	chr5:29001900-29002050	A549	lung:	n/a	n/a
22	CTCF	chr5:29001940-29002090	HVMF	connective:	n/a	n/a
23	CTCF	chr5:29001888-29002052	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr5:29005560-29005577	GM10248	blood:	n/a	n/a
25	CTCF	chr5:29005524-29005623	GM12878	blood:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
26	CTCF	chr5:29001920-29002070	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr5:29005440-29005590	SK-N-SH_RA	brain:	n/a	chr5:29005574-29005583 chr5:29005571-29005589
28	CTCF	chr5:29005480-29005630	RPTEC	kidney:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
29	CTCF	chr5:29010100-29010105	K562	blood:	n/a	n/a
30	CTCF	chr5:29005647-29005655	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr5:29025619-29025719	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr5:29001870-29002045	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:29001860-29002010	HRE	kidney:	n/a	n/a
34	CTCF	chr5:29001900-29002050	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr5:29001894-29002040	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr5:29001908-29002028	LNCaP	prostate:	n/a	n/a
37	CTCF	chr5:29005523-29005625	SK-N-SH_RA	brain:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
38	CTCF	chr5:29025607-29025702	LNCaP	prostate:	n/a	n/a
39	CTCF	chr5:29001880-29002030	RPTEC	kidney:	n/a	n/a
40	CTCF	chr5:29001914-29002037	Gliobla	brain:	n/a	n/a
41	CTCF	chr5:29001900-29002050	BE2_C	brain:	n/a	n/a
42	CTCF	chr5:29016286-29016324	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:29005500-29005650	HL-60	blood:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
44	CTCF	chr5:29016151-29016501	MCF-7	breast:	n/a	n/a
45	CTCF	chr5:29010830-29010869	GM13976	blood:	n/a	n/a
46	CTCF	chr5:29005495-29005668	LNCaP	prostate:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
47	CTCF	chr5:29005480-29005668	HepG2	liver:	n/a	chr5:29005574-29005583 chr5:29005573-29005594 chr5:29005571-29005589
48	CTCF	chr5:29001849-29002144	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:29001860-29002010	HBMEC	blood vessel:	n/a	n/a
50	CTCF	chr5:29001911-29001964	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:55853010..55855279-chr5:29022487..29024544,2	MCF-7	breast:
2	chr5:29005476..29006055-chr5:29218041..29218711,2	MCF-7	breast:
3	chr5:28996102..28998420-chr5:29007454..29009412,2	K562	blood:
4	chr5:29003141..29005545-chr5:29008862..29010410,2	K562	blood:
5	chr5:29003141..29005545-chr5:29008862..29010410,2	K562	blood:
6	chr5:28999555..29001892-chr5:29014306..29015830,2	K562	blood:
7	chr5:29026756..29028723-chr5:29043428..29045918,2	K562	blood:
8	chr5:29005255..29006082-chr5:29217591..29218623,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-13	chr5:29001867-29002148	NONHSAT100830
2	lnc-CDH6-13	chr5:29002720-29003464	NONHSAT100830

Variant related genes	Relation type
SUCLG2P4	TF binding region
ENSG00000249226	chromatin interactions

Extended variants
information (count: 413 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16898411	chr5:29000893-29000894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188995435	chr5:29000937-29000938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180950558	chr5:29000950-29000951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79839201	chr5:29001027-29001028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533323817	chr5:29001043-29001044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202082185	chr5:29001044-29001045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16898412	chr5:29001077-29001078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371714678	chr5:29001084-29001085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16898415	chr5:29001101-29001102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564128650	chr5:29001159-29001160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187060513	chr5:29001182-29001183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576363493	chr5:29001190-29001191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73747134	chr5:29001197-29001198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16898418	chr5:29001345-29001346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541227037	chr5:29001349-29001350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572185704	chr5:29001372-29001373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559715113	chr5:29001397-29001398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574631140	chr5:29001422-29001423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6879476	chr5:29001455-29001456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146550954	chr5:29001456-29001457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6879490	chr5:29001473-29001474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10940767	chr5:29001524-29001525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs16898420	chr5:29001534-29001535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563829812	chr5:29001549-29001550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532613666	chr5:29001588-29001589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547562054	chr5:29001615-29001616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377199718	chr5:29001636-29001637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150262886	chr5:29001657-29001658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138970452	chr5:29001659-29001660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200580350	chr5:29001672-29001673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548582715	chr5:29001681-29001682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200305621	chr5:29001684-29001685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201946641	chr5:29001685-29001686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377671908	chr5:29001686-29001687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537549989	chr5:29001691-29001692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143695496	chr5:29001719-29001720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142097674	chr5:29001728-29001729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs577392612	chr5:29001739-29001740	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181531453	chr5:29001805-29001806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186229352	chr5:29001836-29001837	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs145396879	chr5:29001850-29001851	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs552860254	chr5:29001855-29001856	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs574700675	chr5:29001879-29001880	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs16898422	chr5:29001905-29001906	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs552006159	chr5:29001911-29001912	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs16898424	chr5:29001920-29001921	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs151082914	chr5:29001922-29001923	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs563866307	chr5:29002058-29002059	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs528157891	chr5:29002086-29002087	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs76105309	chr5:29002200-29002201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28999000-29002200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:29002000-29002400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:29002200-29002400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:29002400-29003200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:29016400-29016600	Enhancers	Pancreas	Pancrea
6	chr5:29016400-29017800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:29017400-29017800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:29017600-29018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:29017800-29021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:29021000-29021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:29021200-29023200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:29023200-29023600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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