Variant report

Variant	nsv1058739
Chromosome Location	chr19:56225581-56252087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:305)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:56235024-56235213	IMR90	lung:	n/a	chr19:56235044-56235055
2	CEBPB	chr19:56234945-56235374	K562	blood:	n/a	chr19:56235044-56235055
3	CEBPB	chr19:56234934-56235201	HepG2	liver:	n/a	chr19:56235044-56235055
4	CEBPB	chr19:56235033-56235237	Hela-S3	cervix:	n/a	chr19:56235044-56235055
5	E2F4	chr19:56235735-56235906	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr19:56231664-56231864	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr19:56225572-56225868	MCF10A-Er-Src	breast:	n/a	chr19:56225682-56225691 chr19:56225788-56225797 chr19:56225789-56225798 chr19:56225681-56225690 chr19:56225788-56225798 chr19:56225681-56225691
8	FOS	chr19:56225640-56225889	MCF10A-Er-Src	breast:	n/a	chr19:56225682-56225691 chr19:56225788-56225797 chr19:56225789-56225798 chr19:56225681-56225690 chr19:56225788-56225798 chr19:56225681-56225691
9	FOS	chr19:56225732-56225775	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr19:56231657-56231874	HepG2	liver:	n/a	n/a
11	GATA3	chr19:56248412-56248612	SH-SY5Y	brain:	n/a	n/a
12	HNF4A	chr19:56231625-56231858	HepG2	liver:	n/a	n/a
13	HNF4A	chr19:56231608-56231898	HepG2	liver:	n/a	n/a
14	MAFK	chr19:56241181-56241264	HepG2	liver:	n/a	n/a
15	MAX	chr19:56229359-56229566	NB4	blood:	n/a	chr19:56229456-56229466 chr19:56229423-56229433
16	MAX	chr19:56229266-56229555	K562	blood:	n/a	chr19:56229456-56229466 chr19:56229423-56229433
17	POLR2A	chr19:56231798-56231802	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr19:56248663-56248772	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:56242101-56242165	MCF-7	breast:	n/a	n/a
20	SPI1	chr19:56229604-56229826	K562	blood:	n/a	n/a
21	YY1	chr19:56243706-56243905	K562	blood:	n/a	n/a
22	ZNF263	chr19:56225308-56225678	HEK293-T-REx	kidney:	n/a	chr19:56225641-56225650

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56249291-56249341	GM12878	blood:	n/a
2	chr19:56250127-56250177	HCPEpiC	choroid plexus:	n/a
3	chr19:56250652-56250702	AG09319	gingival:	n/a
4	chr19:56249743-56249793	Hepatocyte	liver:	n/a
5	chr19:56249743-56249793	IMR90	lung:	fetal
6	chr19:56250127-56250177	Jurkat	blood:	n/a
7	chr19:56249891-56249941	NHBE	bronchial:	n/a
8	chr19:56249743-56249793	GM19239	blood:	n/a
9	chr19:56250652-56250702	HIPEpiC	eye:	n/a
10	chr19:56250127-56250177	GM06990	blood:	n/a
11	chr19:56250127-56250177	ECC-1	luminal epithelium:	n/a
12	chr19:56249291-56249341	U87	brain:	n/a
13	chr19:56250127-56250177	AG04449	skin:	fetal
14	chr19:56249291-56249341	BJ	skin:	n/a
15	chr19:56250652-56250702	Caco-2	colon:	n/a
16	chr19:56249743-56249793	HRPEpiC	eye:	n/a
17	chr19:56249743-56249793	MCF-7	breast:	n/a
18	chr19:56249891-56249941	BE2_C	brain:	n/a
19	chr19:56249891-56249941	HRE	kidney:	n/a
20	chr19:56249743-56249793	AG04450	lung:	fetal
21	chr19:56249891-56249941	SK-N-SH_RA	brain:	n/a
22	chr19:56249891-56249941	HNPCEpiC	eye:	n/a
23	chr19:56249891-56249941	Caco-2	colon:	n/a
24	chr19:56250652-56250702	K562	blood:	n/a
25	chr19:56249743-56249793	HMEC	breast:	n/a
26	chr19:56250127-56250177	PFSK-1	brain:	n/a
27	chr19:56250652-56250702	RPTEC	kidney:	n/a
28	chr19:56250127-56250177	Hepatocyte	liver:	n/a
29	chr19:56249291-56249341	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:56250127-56250177	NB4	blood:	n/a
31	chr19:56250127-56250177	K562	blood:	n/a
32	chr19:56249891-56249941	HPAEpiC	pulmonary alveolar:	n/a
33	chr19:56250127-56250177	GM12878	blood:	n/a
34	chr19:56250652-56250702	LNCaP	prostate:	n/a
35	chr19:56249743-56249793	NHDF-neo	bronchial:	n/a
36	chr19:56250127-56250177	HRE	kidney:	n/a
37	chr19:56250127-56250177	AG09309	skin:	n/a
38	chr19:56249743-56249793	HCM	heart:	n/a
39	chr19:56249743-56249793	K562	blood:	n/a
40	chr19:56249891-56249941	GM12891	blood:	n/a
41	chr19:56249891-56249941	Hepatocyte	liver:	n/a
42	chr19:56250652-56250702	PrEC	prostate:	n/a
43	chr19:56249291-56249341	Hepatocyte	liver:	n/a
44	chr19:56250652-56250702	GM19239	blood:	n/a
45	chr19:56250127-56250177	HMEC	breast:	n/a
46	chr19:56249291-56249341	AoSMC	blood vessel:	n/a
47	chr19:56249291-56249341	NT2-D1	testis:	n/a
48	chr19:56250127-56250177	HAEpiC	amniotic membrane:	n/a
49	chr19:56249291-56249341	HepG2	liver:	n/a
50	chr19:56249291-56249341	BE2_C	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56220865..56224676-chr19:56230629..56233910,4	K562	blood:
2	chr19:56223858..56225860-chr19:56232350..56234424,2	MCF-7	breast:
3	chr19:56214305..56217905-chr19:56226620..56229782,3	K562	blood:
4	chr19:56238198..56240970-chr19:56241234..56244950,3	K562	blood:
5	chr19:56238198..56240970-chr19:56241234..56244950,3	K562	blood:
6	chr19:56235628..56237563-chr19:56238929..56240909,2	K562	blood:
7	chr19:56225201..56225701-chr7:100217318..100218312,2	MCF-7	breast:
8	chr19:56235628..56237563-chr19:56238929..56240909,2	K562	blood:
9	chr19:56223566..56226143-chr19:56226650..56230434,4	K562	blood:
10	chr19:56221006..56222567-chr19:56226500..56228203,2	K562	blood:
11	chr19:56223391..56225546-chr19:56227295..56229501,3	K562	blood:
12	chr19:56223858..56225860-chr19:56232350..56234424,2	MCF-7	breast:
13	chr19:56230205..56232527-chr19:56319829..56322446,2	K562	blood:
14	chr19:56223566..56226143-chr19:56226650..56230434,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFPL4A-1	chr19:56248651-56248966	NONHSAT068080

No data

Variant related genes	Relation type
RN7SKP109	TF binding region
NLRP9	TF binding region
RN7SKP109	CpG island
NLRP9	CpG island
ENSG00000267689	chromatin interactions

Extended variants
information (count: 463 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552610038	chr19:56225585-56225586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148968233	chr19:56225592-56225593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192088571	chr19:56225661-56225662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143822713	chr19:56225666-56225667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536983568	chr19:56225693-56225694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544649732	chr19:56225792-56225793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567199434	chr19:56225797-56225798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376881319	chr19:56225803-56225804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138458055	chr19:56225851-56225852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546204657	chr19:56225891-56225892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143574530	chr19:56225895-56225896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572976015	chr19:56225901-56225902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539205338	chr19:56225925-56225926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558441559	chr19:56225939-56225940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184082314	chr19:56225945-56225946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540606215	chr19:56225952-56225953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34849666	chr19:56225953-56225954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117606060	chr19:56226008-56226009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544058679	chr19:56226032-56226033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369306065	chr19:56226069-56226070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574702364	chr19:56226079-56226080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142795884	chr19:56226092-56226093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560186707	chr19:56226121-56226122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112176464	chr19:56226122-56226123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544790324	chr19:56226127-56226128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34668477	chr19:56226137-56226138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564961743	chr19:56226159-56226160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73615246	chr19:56226160-56226161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550645219	chr19:56226162-56226163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187433292	chr19:56226163-56226164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529664312	chr19:56226184-56226185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56909302	chr19:56226186-56226187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566536546	chr19:56226263-56226264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559813415	chr19:56226285-56226286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138908052	chr19:56226289-56226290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111588663	chr19:56226320-56226321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559171646	chr19:56226334-56226335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373274630	chr19:56226370-56226371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192757351	chr19:56226384-56226385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377160347	chr19:56226391-56226392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369327772	chr19:56226401-56226402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200405165	chr19:56226402-56226403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538520428	chr19:56226412-56226413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114738169	chr19:56226413-56226414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201859446	chr19:56226415-56226416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140861534	chr19:56226420-56226421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200811261	chr19:56226430-56226431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141468083	chr19:56226456-56226457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73933317	chr19:56226457-56226458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376757627	chr19:56226465-56226466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56215800-56228000	Weak transcription	Pancreas	Pancrea
2	chr19:56226400-56226600	Enhancers	Lung	lung
3	chr19:56228000-56228200	ZNF genes & repeats	Pancreas	Pancrea
4	chr19:56229000-56229400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr19:56231600-56232200	Enhancers	HepG2	liver
6	chr19:56235200-56235800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr19:56235800-56236200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:56236200-56237000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr19:56237000-56237600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:56244800-56245200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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