Variant report

Variant	nsv1019109
Chromosome Location	chr5:104336198-104409784
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	ARID3A	chr5:104369169-104369636	K562	blood:	n/a	n/a
2	ATF1	chr5:104373680-104373755	K562	blood:	n/a	n/a
3	ATF1	chr5:104370024-104370214	K562	blood:	n/a	n/a
4	BHLHE40	chr5:104369418-104369675	K562	blood:	n/a	n/a
5	BRCA1	chr5:104393511-104393580	GM12878	blood:	n/a	n/a
6	CBX3	chr5:104370642-104370939	K562	blood:	n/a	n/a
7	CBX3	chr5:104393078-104393434	K562	blood:	n/a	n/a
8	CBX3	chr5:104393083-104393385	K562	blood:	n/a	n/a
9	CCNT2	chr5:104369421-104369754	K562	blood:	n/a	chr5:104369561-104369581
10	CCNT2	chr5:104370115-104370461	K562	blood:	n/a	n/a
11	CEBPB	chr5:104370108-104370517	ECC-1	luminal epithelium:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
12	CEBPB	chr5:104370063-104370467	A549	lung:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
13	CEBPB	chr5:104391916-104392212	A549	lung:	n/a	chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056
14	CEBPB	chr5:104369173-104369683	K562	blood:	n/a	chr5:104369288-104369301
15	CEBPB	chr5:104370011-104370528	HepG2	liver:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
16	CEBPB	chr5:104370069-104370367	H1-hESC	embryonic stem cell:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
17	CEBPB	chr5:104369982-104370331	K562	blood:	n/a	n/a
18	CEBPB	chr5:104391872-104392206	HepG2	liver:	n/a	chr5:104392017-104392026 chr5:104392042-104392059 chr5:104392015-104392026 chr5:104392045-104392056
19	CEBPB	chr5:104369987-104370554	Hela-S3	cervix:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
20	CEBPB	chr5:104373830-104373968	HepG2	liver:	n/a	n/a
21	CEBPB	chr5:104369993-104370525	K562	blood:	n/a	chr5:104370351-104370364 chr5:104370351-104370362 chr5:104370353-104370364
22	CEBPD	chr5:104369352-104369808	K562	blood:	n/a	n/a
23	CTCF	chr5:104386380-104386454	GM10248	blood:	n/a	n/a
24	CTCF	chr5:104386370-104386472	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr5:104389342-104389378	MCF-7	breast:	n/a	n/a
26	CTCF	chr5:104394548-104394560	LNCaP	prostate:	n/a	n/a
27	CUX1	chr5:104369453-104370241	K562	blood:	n/a	n/a
28	E2F4	chr5:104358206-104358406	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr5:104399543-104399743	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr5:104368954-104369463	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr5:104378291-104378393	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr5:104369350-104370502	K562	blood:	n/a	chr5:104370179-104370193 chr5:104369800-104369814 chr5:104370352-104370366 chr5:104369731-104369745
33	EP300	chr5:104373654-104373968	SK-N-SH_RA	brain:	n/a	chr5:104373911-104373919
34	EP300	chr5:104383833-104384109	SK-N-SH_RA	brain:	n/a	n/a
35	FOS	chr5:104396813-104397065	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr5:104396893-104396977	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr5:104384329-104384529	HUVEC	blood vessel:	n/a	n/a
38	GATA2	chr5:104369314-104369735	SH-SY5Y	brain:	n/a	chr5:104369570-104369579 chr5:104369561-104369578 chr5:104369570-104369580 chr5:104369551-104369564 chr5:104369572-104369579 chr5:104369565-104369586 chr5:104369572-104369579 chr5:104369572-104369579 chr5:104369567-104369583
39	GATA2	chr5:104383701-104384337	SH-SY5Y	brain:	n/a	chr5:104383831-104383847
40	GATA3	chr5:104369260-104369557	SH-SY5Y	brain:	n/a	chr5:104369275-104369285 chr5:104369276-104369283 chr5:104369276-104369283 chr5:104369276-104369283 chr5:104369269-104369290 chr5:104369272-104369288
41	GATA3	chr5:104383951-104384334	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr5:104383927-104384308	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr5:104404784-104404926	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr5:104373513-104374018	SK-N-SH	brain:	n/a	chr5:104373977-104373987
45	GATA3	chr5:104373506-104373686	SH-SY5Y	brain:	n/a	n/a
46	IRF1	chr5:104369456-104369627	K562	blood:	n/a	n/a
47	JUN	chr5:104347113-104347222	H1-hESC	embryonic stem cell:	n/a	n/a
48	JUND	chr5:104363191-104363383	HepG2	liver:	n/a	chr5:104363257-104363268
49	JUND	chr5:104369355-104369737	K562	blood:	n/a	n/a
50	KAP1	chr5:104392925-104393528	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:104345171-104345221	PANC-1	pancreas:	n/a
2	chr5:104345171-104345221	NH-A	brain:	n/a
3	chr5:104345171-104345221	AG10803	skin:	n/a
4	chr5:104345171-104345221	SK-N-SH	brain:	n/a
5	chr5:104345171-104345221	NHBE	bronchial:	n/a
6	chr5:104345171-104345221	GM19239	blood:	n/a
7	chr5:104345171-104345221	GM06990	blood:	n/a
8	chr5:104345171-104345221	GM12891	blood:	n/a
9	chr5:104345171-104345221	Hepatocyte	liver:	n/a
10	chr5:104345171-104345221	Jurkat	blood:	n/a
11	chr5:104345171-104345221	HCM	heart:	n/a
12	chr5:104345171-104345221	AG04449	skin:	fetal
13	chr5:104345171-104345221	MCF10A-Er-Src	breast:	n/a
14	chr5:104345171-104345221	AoSMC	blood vessel:	n/a
15	chr5:104345171-104345221	AG04450	lung:	fetal
16	chr5:104345171-104345221	U87	brain:	n/a
17	chr5:104345171-104345221	NT2-D1	testis:	n/a
18	chr5:104345171-104345221	HAEpiC	amniotic membrane:	n/a
19	chr5:104345171-104345221	MCF-7	breast:	n/a
20	chr5:104345171-104345221	H1-hESC	embryonic stem cell:	embryo
21	chr5:104345171-104345221	HNPCEpiC	eye:	n/a
22	chr5:104345171-104345221	NHDF-neo	bronchial:	n/a
23	chr5:104345171-104345221	HUVEC	blood vessel:	n/a
24	chr5:104345171-104345221	HEEpiC	esophagus:	n/a
25	chr5:104345171-104345221	GM12892	blood:	n/a
26	chr5:104345171-104345221	BJ	skin:	n/a
27	chr5:104345171-104345221	AG09309	skin:	n/a
28	chr5:104345171-104345221	IMR90	lung:	fetal
29	chr5:104345171-104345221	ovcar-3	ovarian:	n/a
30	chr5:104345171-104345221	HMEC	breast:	n/a
31	chr5:104345171-104345221	SK-N-SH_RA	brain:	n/a
32	chr5:104345171-104345221	Hela-S3	cervix:	n/a
33	chr5:104345171-104345221	HCT-116	colon:	n/a
34	chr5:104345171-104345221	SAEC	small airway:	n/a
35	chr5:104345171-104345221	K562	blood:	n/a
36	chr5:104345171-104345221	PrEC	prostate:	n/a
37	chr5:104345171-104345221	SKMC	muscle:	n/a
38	chr5:104345171-104345221	SK-N-MC	brain:	n/a
39	chr5:104345171-104345221	HCPEpiC	choroid plexus:	n/a
40	chr5:104345171-104345221	A549	lung:	n/a
41	chr5:104345171-104345221	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:104345171-104345221	AG09319	gingival:	n/a
43	chr5:104345171-104345221	HRPEpiC	eye:	n/a
44	chr5:104345171-104345221	ECC-1	luminal epithelium:	n/a
45	chr5:104345171-104345221	HEK293	kidney:	embryo
46	chr5:104345171-104345221	Caco-2	colon:	n/a
47	chr5:104345171-104345221	CMK	blood:	n/a
48	chr5:104345171-104345221	HL-60	blood:	n/a
49	chr5:104345171-104345221	HRE	kidney:	n/a
50	chr5:104345171-104345221	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:104369743..104372595-chr5:104912590..104914639,2	K562	blood:
2	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
3	chr5:104370391..104371902-chr5:104374539..104376562,2	K562	blood:
4	chr5:104369671..104371200-chr5:104727235..104729208,2	K562	blood:
5	chr5:104370391..104373072-chr5:104374539..104377725,3	K562	blood:
6	chr5:104370391..104371902-chr5:104374539..104376562,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-7	chr5:104344562-104344618	ENSG00000253584
2	lnc-NUDT12-7	chr5:104344562-104344612	ENSG00000253584

Variant related genes	Relation type
ENSG00000253584	TF binding region
ENSG00000253584	CpG island
ENSG00000251574	chromatin interactions

Extended variants
information (count: 544 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529027939	chr5:104344563-104344564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs144660050	chr5:104344616-104344617	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs528159885	chr5:104345171-104345172	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs144882081	chr5:104345172-104345173	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs562782909	chr5:104345204-104345205	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs371559449	chr5:104346738-104346739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552723532	chr5:104346786-104346787	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562877915	chr5:104346858-104346859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573585961	chr5:104346860-104346861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs4360012	chr5:104347140-104347141	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4277888	chr5:104347167-104347168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs146035872	chr5:104347185-104347186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200713162	chr5:104347186-104347187	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577599129	chr5:104347205-104347206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546249765	chr5:104347211-104347212	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562899655	chr5:104347216-104347217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs4461607	chr5:104347357-104347358	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538968373	chr5:104347369-104347370	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111798210	chr5:104347378-104347379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs4501314	chr5:104347392-104347393	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs4260638	chr5:104347428-104347429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4512105	chr5:104347459-104347460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs546504869	chr5:104347470-104347471	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs571456642	chr5:104347497-104347498	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532251387	chr5:104347511-104347512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs551173771	chr5:104369411-104369412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567724461	chr5:104369424-104369425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80213085	chr5:104369447-104369448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13168070	chr5:104369455-104369456	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567169618	chr5:104369459-104369460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539076977	chr5:104369475-104369476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529169327	chr5:104369491-104369492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558639915	chr5:104369503-104369504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549198741	chr5:104369506-104369507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575697070	chr5:104369514-104369515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568940603	chr5:104369547-104369548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544354833	chr5:104369582-104369583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557137686	chr5:104369592-104369593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369630905	chr5:104369605-104369606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370273956	chr5:104369717-104369718	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573791045	chr5:104369739-104369740	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34567596	chr5:104369804-104369805	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542393671	chr5:104369836-104369837	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs7709488	chr5:104369901-104369902	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528326636	chr5:104369906-104369907	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544604571	chr5:104369921-104369922	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564695647	chr5:104369937-104369938	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62366393	chr5:104369953-104369954	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550436959	chr5:104369954-104369955	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs118109132	chr5:104369955-104369956	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104369400-104369800	Enhancers	K562	blood
2	chr5:104369400-104370000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:104369400-104370200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:104369800-104370200	Flanking Active TSS	K562	blood
5	chr5:104370200-104370400	Enhancers	K562	blood
6	chr5:104370200-104370600	Enhancers	Hela-S3	cervix
7	chr5:104370400-104371600	Weak transcription	K562	blood
8	chr5:104376200-104376600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:104380200-104380600	Enhancers	Fetal Brain Male	brain
10	chr5:104388000-104392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:104389600-104390600	Enhancers	Fetal Lung	lung
12	chr5:104390200-104390800	Active TSS	Fetal Brain Male	brain
13	chr5:104392400-104393200	ZNF genes & repeats	Esophagus	oesophagus
14	chr5:104392400-104394000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:104392400-104394000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:104392400-104394000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:104398800-104402000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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