Variant report

Variant	nsv1017931
Chromosome Location	chr5:12780942-12838521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:427)
Chromatin interactive
region (count:17)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:127 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:12791862-12792048	GM12878	blood:	n/a	n/a
2	CCNT2	chr5:12808646-12808850	K562	blood:	n/a	n/a
3	CEBPB	chr5:12830486-12830765	IMR90	lung:	n/a	chr5:12830709-12830720 chr5:12830709-12830720
4	CEBPB	chr5:12780704-12781012	A549	lung:	n/a	chr5:12780877-12780888 chr5:12780877-12780890
5	CEBPB	chr5:12830531-12830745	A549	lung:	n/a	chr5:12830709-12830720 chr5:12830709-12830720
6	CEBPB	chr5:12830502-12830745	H1-hESC	embryonic stem cell:	n/a	chr5:12830709-12830720 chr5:12830709-12830720
7	CEBPB	chr5:12830486-12830848	Hela-S3	cervix:	n/a	chr5:12830709-12830720 chr5:12830709-12830720
8	CEBPB	chr5:12780719-12781007	HepG2	liver:	n/a	chr5:12780877-12780888 chr5:12780877-12780890
9	CEBPB	chr5:12780717-12781003	K562	blood:	n/a	chr5:12780877-12780888 chr5:12780877-12780890
10	CEBPB	chr5:12830485-12830830	HepG2	liver:	n/a	chr5:12830709-12830720 chr5:12830709-12830720
11	CTCF	chr5:12807180-12807330	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr5:12803980-12804130	MCF-7	breast:	n/a	n/a
13	CTCF	chr5:12826560-12826710	HMF	breast:	n/a	n/a
14	CTCF	chr5:12826580-12826730	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr5:12826580-12826730	HEK293	kidney:	n/a	n/a
16	CTCF	chr5:12826500-12826650	BE2_C	brain:	n/a	n/a
17	CTCF	chr5:12816520-12816670	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr5:12805460-12805610	GM12865	blood:	n/a	n/a
19	CTCF	chr5:12826580-12826730	HMF	breast:	n/a	n/a
20	CTCF	chr5:12826580-12826730	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr5:12804095-12804201	LNCaP	prostate:	n/a	n/a
22	CTCF	chr5:12804202-12804206	LNCaP	prostate:	n/a	n/a
23	CTCF	chr5:12804029-12804221	K562	blood:	n/a	n/a
24	CTCF	chr5:12826640-12826790	GM12873	blood:	n/a	n/a
25	CTCF	chr5:12826340-12826490	A549	lung:	n/a	n/a
26	CTCF	chr5:12826480-12826630	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:12804117-12804169	LNCaP	prostate:	n/a	n/a
28	E2F4	chr5:12827966-12828176	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr5:12780717-12781091	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr5:12791949-12791977	GM12878	blood:	n/a	n/a
31	ELF1	chr5:12805239-12805700	MCF-7	breast:	n/a	n/a
32	EP300	chr5:12808121-12808124	K562	blood:	n/a	n/a
33	EP300	chr5:12785622-12785650	GM12878	blood:	n/a	n/a
34	FOS	chr5:12780636-12781030	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr5:12780644-12781031	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr5:12780671-12781024	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr5:12780673-12781016	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA1	chr5:12805536-12805744	T-47D	breast:	n/a	n/a
39	GABPA	chr5:12805221-12805686	MCF-7	breast:	n/a	n/a
40	GATA3	chr5:12828502-12828529	MCF-7	breast:	n/a	n/a
41	IRF1	chr5:12800246-12800272	K562	blood:	n/a	n/a
42	IRF3	chr5:12782138-12782193	GM12878	blood:	n/a	n/a
43	JUN	chr5:12795973-12796234	HepG2	liver:	n/a	chr5:12796116-12796125 chr5:12796112-12796125
44	JUN	chr5:12782723-12782823	K562	blood:	n/a	n/a
45	JUND	chr5:12795966-12796258	HepG2	liver:	n/a	chr5:12796116-12796125
46	KAP1	chr5:12825401-12826361	K562	blood:	n/a	n/a
47	MAFF	chr5:12793509-12793855	K562	blood:	n/a	chr5:12793676-12793694
48	MAFF	chr5:12796506-12796577	K562	blood:	n/a	n/a
49	MAFF	chr5:12796230-12796654	HepG2	liver:	n/a	n/a
50	MAFF	chr5:12826774-12826819	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:12795410-12795460	K562	blood:	n/a
2	chr5:12795646-12795696	HCM	heart:	n/a
3	chr5:12791029-12791079	ProgFib	skin:	n/a
4	chr5:12795183-12795233	Hepatocyte	liver:	n/a
5	chr5:12791029-12791079	HEEpiC	esophagus:	n/a
6	chr5:12794800-12794850	PFSK-1	brain:	n/a
7	chr5:12795410-12795460	GM12892	blood:	n/a
8	chr5:12794800-12794850	AG04449	skin:	fetal
9	chr5:12795646-12795696	GM06990	blood:	n/a
10	chr5:12794800-12794850	SAEC	small airway:	n/a
11	chr5:12795183-12795233	AoSMC	blood vessel:	n/a
12	chr5:12795705-12795755	HAEpiC	amniotic membrane:	n/a
13	chr5:12791029-12791079	HL-60	blood:	n/a
14	chr5:12794800-12794850	CMK	blood:	n/a
15	chr5:12795646-12795696	NT2-D1	testis:	n/a
16	chr5:12794800-12794850	MCF-7	breast:	n/a
17	chr5:12795646-12795696	Hela-S3	cervix:	n/a
18	chr5:12791029-12791079	LNCaP	prostate:	n/a
19	chr5:12791029-12791079	SAEC	small airway:	n/a
20	chr5:12795646-12795696	HIPEpiC	eye:	n/a
21	chr5:12791029-12791079	HRPEpiC	eye:	n/a
22	chr5:12795705-12795755	HRE	kidney:	n/a
23	chr5:12795705-12795755	Jurkat	blood:	n/a
24	chr5:12794310-12794360	PFSK-1	brain:	n/a
25	chr5:12795705-12795755	ovcar-3	ovarian:	n/a
26	chr5:12795646-12795696	T-47D	breast:	n/a
27	chr5:12795705-12795755	HRCEpiC	kidney:	n/a
28	chr5:12794310-12794360	HMEC	breast:	n/a
29	chr5:12795705-12795755	AG09319	gingival:	n/a
30	chr5:12791029-12791079	H1-hESC	embryonic stem cell:	embryo
31	chr5:12795646-12795696	HepG2	liver:	n/a
32	chr5:12794800-12794850	HMEC	breast:	n/a
33	chr5:12795183-12795233	HCPEpiC	choroid plexus:	n/a
34	chr5:12795183-12795233	BE2_C	brain:	n/a
35	chr5:12795705-12795755	U87	brain:	n/a
36	chr5:12795410-12795460	ProgFib	skin:	n/a
37	chr5:12794800-12794850	NHDF-neo	bronchial:	n/a
38	chr5:12794310-12794360	HCF	heart:	n/a
39	chr5:12791029-12791079	SK-N-SH	brain:	n/a
40	chr5:12795705-12795755	IMR90	lung:	fetal
41	chr5:12795646-12795696	RPTEC	kidney:	n/a
42	chr5:12794800-12794850	LNCaP	prostate:	n/a
43	chr5:12795705-12795755	H1-hESC	embryonic stem cell:	embryo
44	chr5:12795646-12795696	HUVEC	blood vessel:	n/a
45	chr5:12791029-12791079	HAEpiC	amniotic membrane:	n/a
46	chr5:12794800-12794850	GM19239	blood:	n/a
47	chr5:12794800-12794850	HRPEpiC	eye:	n/a
48	chr5:12795183-12795233	H1-hESC	embryonic stem cell:	embryo
49	chr5:12794310-12794360	HEEpiC	esophagus:	n/a
50	chr5:12795410-12795460	HIPEpiC	eye:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:12660866..12661403-chr5:12804029..12804604,2	MCF-7	breast:
2	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
3	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:
4	chr5:12272244..12273131-chr5:12803955..12804598,2	MCF-7	breast:
5	chr5:12790107..12792363-chr5:12800379..12802802,3	MCF-7	breast:
6	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
7	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
8	chr5:12833534..12837794-chr5:12838880..12843037,3	MCF-7	breast:
9	chr5:12832982..12835873-chr5:12839996..12843088,3	K562	blood:
10	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:
11	chr5:12778478..12781516-chr5:12781802..12783481,3	K562	blood:
12	chr5:12780362..12783052-chr5:12785644..12787505,2	K562	blood:
13	chr5:12810723..12813220-chr5:12814346..12816159,2	MCF-7	breast:
14	chr5:12815455..12818211-chr5:12818393..12820982,3	MCF-7	breast:
15	chr5:12790107..12792363-chr5:12800379..12802802,3	MCF-7	breast:
16	chr5:12794344..12796084-chr5:12809073..12810960,2	MCF-7	breast:
17	chr5:12779777..12782009-chr5:12783141..12784661,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIO-8	chr5:12794843-12795634	NONHSAT100519
2	lnc-TRIO-4	chr5:12805052-12805295	NONHSAT100511
3	lnc-CTNND2-4	chr5:12794212-12794843	NONHSAT100518
4	lnc-TRIO-4	chr5:12804316-12804475	ENSG00000248131
5	lnc-TRIO-4	chr5:12805052-12805295	NONHSAT100514
6	lnc-DNAH5-2	chr5:12837290-12837367	XLOC_004737

No data

Variant related genes	Relation type
ENSG00000251112	TF binding region
ENSG00000249053	TF binding region
ENSG00000251112	CpG island
ENSG00000249053	CpG island
ENSG00000249053	chromatin interactions
ANKIB1	miRNA target sites
PURA	miRNA target sites

Extended variants
information (count: 368 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:368 , 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	rs148025058	chr5:12791030-12791031	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs542366306	chr5:12791801-12791802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs561497138	chr5:12791833-12791834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139468914	chr5:12791943-12791944	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs142721017	chr5:12791953-12791954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565270015	chr5:12791989-12791990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552065914	chr5:12792054-12792055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567434400	chr5:12792334-12792335	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556955414	chr5:12792537-12792538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546657352	chr5:12792581-12792582	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575146490	chr5:12792584-12792585	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs145111598	chr5:12792633-12792634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147722713	chr5:12792668-12792669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532629461	chr5:12792879-12792880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535557474	chr5:12792955-12792956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544522597	chr5:12792970-12792971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562874600	chr5:12792986-12792987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530069587	chr5:12792991-12792992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376777599	chr5:12793047-12793048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113172740	chr5:12793089-12793090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566894969	chr5:12793129-12793130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140597943	chr5:12793170-12793171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576718997	chr5:12793181-12793182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371542946	chr5:12793194-12793195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145663566	chr5:12793199-12793200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146540307	chr5:12793216-12793217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560849481	chr5:12793219-12793220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556994737	chr5:12793258-12793259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559339020	chr5:12793278-12793279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370222191	chr5:12793381-12793382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370329426	chr5:12793397-12793398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4608922	chr5:12793509-12793510	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535901783	chr5:12793528-12793529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs145040427	chr5:12793534-12793535	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs371366225	chr5:12793545-12793546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138037413	chr5:12793549-12793550	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs199511119	chr5:12793597-12793598	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs149500093	chr5:12793600-12793601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143127382	chr5:12793607-12793608	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs190086074	chr5:12793705-12793706	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs559712608	chr5:12793774-12793775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs193045200	chr5:12793813-12793814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368425009	chr5:12793822-12793823	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375692565	chr5:12793823-12793824	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs4388211	chr5:12793840-12793841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530097212	chr5:12793886-12793887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541905998	chr5:12793921-12793922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574811122	chr5:12794027-12794028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560542392	chr5:12794070-12794071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374544142	chr5:12794074-12794075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12792800-12796000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:12794600-12794800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:12794800-12795000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:12794800-12795600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:12796000-12796600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr5:12826600-12827000	Active TSS	Fetal Heart	heart
7	chr5:12833400-12833800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:12835000-12835200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:12835000-12835200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
10	chr5:12837800-12838000	Enhancers	HUES48 Cell Line	embryonic stem cell

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