Variant report

Variant	nsv978814
Chromosome Location	chr19:39756976-39760724
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	CTCF	chr19:39758802-39759045	GM19239	blood:	n/a	chr19:39758932-39758941
2	CTCF	chr19:39758660-39758810	RPTEC	kidney:	n/a	n/a
3	CTCF	chr19:39758832-39759015	GM10248	blood:	n/a	chr19:39758932-39758941
4	CTCF	chr19:39758829-39759049	Pancreas_OC	pancreas:	n/a	chr19:39758932-39758941
5	CTCF	chr19:39758680-39758830	HCT-116	colon:	n/a	n/a
6	CTCF	chr19:39758680-39758830	HAc	cerebellar:	n/a	n/a
7	CTCF	chr19:39758680-39758830	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr19:39758793-39759062	GM19238	blood:	n/a	chr19:39758932-39758941
9	CTCF	chr19:39758817-39759031	HepG2	liver:	n/a	chr19:39758932-39758941
10	CTCF	chr19:39758840-39759079	LNCaP	prostate:	n/a	chr19:39758932-39758941
11	CTCF	chr19:39759200-39759350	HEK293	kidney:	n/a	n/a
12	CTCF	chr19:39758680-39758830	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:39758660-39758810	HepG2	liver:	n/a	n/a
14	CTCF	chr19:39758793-39759064	K562	blood:	n/a	chr19:39758932-39758941
15	CTCF	chr19:39758770-39759111	K562	blood:	n/a	chr19:39758932-39758941
16	CTCF	chr19:39759220-39759370	GM12873	blood:	n/a	n/a
17	CTCF	chr19:39758842-39759104	A549	lung:	n/a	chr19:39758932-39758941
18	CTCF	chr19:39758680-39758830	GM12873	blood:	n/a	n/a
19	CTCF	chr19:39758826-39759025	NHEK	skin:	n/a	chr19:39758932-39758941
20	CTCF	chr19:39758807-39759051	GM19240	blood:	n/a	chr19:39758932-39758941
21	CTCF	chr19:39758873-39759009	Kidney_OC	kidney:	n/a	chr19:39758932-39758941
22	CTCF	chr19:39758700-39758850	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr19:39758847-39759010	Medullo	brain:	n/a	chr19:39758932-39758941
24	CTCF	chr19:39758859-39759058	Spleen_OC	spleen:	n/a	chr19:39758932-39758941
25	CTCF	chr19:39758793-39759041	MCF-7	breast:	n/a	chr19:39758932-39758941
26	CTCF	chr19:39758822-39759015	GM10266	blood:	n/a	chr19:39758932-39758941
27	CTCF	chr19:39758875-39759062	LNCaP	prostate:	n/a	chr19:39758932-39758941
28	CTCF	chr19:39758811-39759043	Hela-S3	cervix:	n/a	chr19:39758932-39758941
29	CTCF	chr19:39758813-39759080	A549	lung:	n/a	chr19:39758932-39758941
30	CTCF	chr19:39758799-39759039	MCF-7	breast:	n/a	chr19:39758932-39758941
31	CTCF	chr19:39758660-39758810	GM12868	blood:	n/a	n/a
32	CTCF	chr19:39758821-39758990	ProgFib	skin:	n/a	chr19:39758932-39758941
33	CTCF	chr19:39758704-39759134	A549	lung:	n/a	chr19:39758932-39758941
34	CTCF	chr19:39758660-39758810	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr19:39758775-39759091	MCF-7	breast:	n/a	chr19:39758932-39758941
36	CTCF	chr19:39758700-39758850	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr19:39758680-39758830	A549	lung:	n/a	n/a
38	CTCF	chr19:39758778-39759039	H1-hESC	embryonic stem cell:	n/a	chr19:39758932-39758941
39	CTCF	chr19:39757179-39757219	LNCaP	prostate:	n/a	n/a
40	CTCF	chr19:39759263-39759340	Lung_OC	lung:	n/a	n/a
41	CTCF	chr19:39758779-39759078	K562	blood:	n/a	chr19:39758932-39758941
42	CTCF	chr19:39758649-39759152	A549	lung:	n/a	chr19:39758932-39758941
43	CTCF	chr19:39758806-39759027	Gliobla	brain:	n/a	chr19:39758932-39758941
44	CTCF	chr19:39758794-39759035	GM12891	blood:	n/a	chr19:39758932-39758941
45	CTCF	chr19:39758815-39759030	A549	lung:	n/a	chr19:39758932-39758941
46	CTCF	chr19:39758700-39758850	GM12872	blood:	n/a	n/a
47	CTCF	chr19:39758866-39758957	Fibrobl	skin:	n/a	chr19:39758932-39758941
48	CTCF	chr19:39758842-39759015	HUVEC	blood vessel:	n/a	chr19:39758932-39758941
49	CTCF	chr19:39758787-39759069	MCF-7	breast:	n/a	chr19:39758932-39758941
50	CTCF	chr19:39758818-39759016	GM20000	blood:	n/a	chr19:39758932-39758941

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39759357-39759407	HPAEpiC	pulmonary alveolar:	n/a
2	chr19:39759357-39759407	U87	brain:	n/a
3	chr19:39759357-39759407	NT2-D1	testis:	n/a
4	chr19:39759335-39759385	SK-N-SH_RA	brain:	n/a
5	chr19:39759357-39759407	CMK	blood:	n/a
6	chr19:39759335-39759385	RPTEC	kidney:	n/a
7	chr19:39759335-39759385	NT2-D1	testis:	n/a
8	chr19:39759335-39759385	HEEpiC	esophagus:	n/a
9	chr19:39759357-39759407	HL-60	blood:	n/a
10	chr19:39759357-39759407	RPTEC	kidney:	n/a
11	chr19:39759357-39759407	ovcar-3	ovarian:	n/a
12	chr19:39759357-39759407	NHDF-neo	bronchial:	n/a
13	chr19:39759357-39759407	HepG2	liver:	n/a
14	chr19:39759357-39759407	MCF10A-Er-Src	breast:	n/a
15	chr19:39759357-39759407	T-47D	breast:	n/a
16	chr19:39759357-39759407	HMEC	breast:	n/a
17	chr19:39759357-39759407	AG09309	skin:	n/a
18	chr19:39759357-39759407	SK-N-SH	brain:	n/a
19	chr19:39759335-39759385	HRPEpiC	eye:	n/a
20	chr19:39759357-39759407	HRCEpiC	kidney:	n/a
21	chr19:39759357-39759407	Hepatocyte	liver:	n/a
22	chr19:39759335-39759385	LNCaP	prostate:	n/a
23	chr19:39759357-39759407	GM06990	blood:	n/a
24	chr19:39759357-39759407	ProgFib	skin:	n/a
25	chr19:39759335-39759385	HL-60	blood:	n/a
26	chr19:39759357-39759407	Jurkat	blood:	n/a
27	chr19:39759357-39759407	MCF-7	breast:	n/a
28	chr19:39759335-39759385	GM12892	blood:	n/a
29	chr19:39759335-39759385	A549	lung:	n/a
30	chr19:39759335-39759385	HepG2	liver:	n/a
31	chr19:39759357-39759407	HCT-116	colon:	n/a
32	chr19:39759335-39759385	AG09319	gingival:	n/a
33	chr19:39759357-39759407	GM19239	blood:	n/a
34	chr19:39759335-39759385	MCF-7	breast:	n/a
35	chr19:39759335-39759385	HCT-116	colon:	n/a
36	chr19:39759357-39759407	Caco-2	colon:	n/a
37	chr19:39759335-39759385	PFSK-1	brain:	n/a
38	chr19:39759335-39759385	PANC-1	pancreas:	n/a
39	chr19:39759357-39759407	PFSK-1	brain:	n/a
40	chr19:39759357-39759407	Hela-S3	cervix:	n/a
41	chr19:39759335-39759385	U87	brain:	n/a
42	chr19:39759357-39759407	GM12891	blood:	n/a
43	chr19:39759357-39759407	SAEC	small airway:	n/a
44	chr19:39759357-39759407	HCPEpiC	choroid plexus:	n/a
45	chr19:39759335-39759385	GM06990	blood:	n/a
46	chr19:39759357-39759407	AG09319	gingival:	n/a
47	chr19:39759335-39759385	HRCEpiC	kidney:	n/a
48	chr19:39759335-39759385	Jurkat	blood:	n/a
49	chr19:39759335-39759385	ECC-1	luminal epithelium:	n/a
50	chr19:39759357-39759407	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39751549..39753214-chr19:39756259..39759130,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL28B-3	chr19:39760288-39760436	refGeneNc_890_NR_027620
2	lnc-IL28B-3	chr19:39760011-39760201	refGeneNc_890_NR_027620
3	lnc-IL28B-3	chr19:39759479-39759739	refGeneNc_890_NR_027620

Variant related genes	Relation type
IFNL2	TF binding region
IFNL2	CpG island

Extended variants
information (count: 63 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540876781	chr19:39757033-39757034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559538864	chr19:39757117-39757118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574780351	chr19:39757160-39757161	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542171113	chr19:39757185-39757186	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs190692928	chr19:39758685-39758686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs568168082	chr19:39758727-39758728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535596192	chr19:39758751-39758752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372498652	chr19:39758756-39758757	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs143225171	chr19:39758812-39758813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569070504	chr19:39758853-39758854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs539322058	chr19:39758866-39758867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558055403	chr19:39758896-39758897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs577117572	chr19:39758932-39758933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541425511	chr19:39758945-39758946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs552990212	chr19:39759133-39759134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535520944	chr19:39759482-39759483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs557053526	chr19:39759500-39759501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs200675991	chr19:39759504-39759505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376999742	chr19:39759514-39759515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs369868159	chr19:39759524-39759525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs565459671	chr19:39759540-39759541	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs553114	chr19:39759542-39759543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs553088	chr19:39759552-39759553	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs540965298	chr19:39759588-39759589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs532766892	chr19:39759633-39759634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs397826845	chr19:39759636-39759637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs561634632	chr19:39759640-39759641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs114035390	chr19:39759660-39759661	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550650355	chr19:39759670-39759671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs562612532	chr19:39759696-39759697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs532926776	chr19:39759707-39759708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs551550242	chr19:39759721-39759722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs566577929	chr19:39759736-39759737	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs139608275	chr19:39760054-39760055	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs30481	chr19:39760069-39760070	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs370263782	chr19:39760092-39760093	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs374174818	chr19:39760094-39760095	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs28405467	chr19:39760095-39760096	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368771426	chr19:39760097-39760098	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs556038833	chr19:39760099-39760100	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs375319879	chr19:39760137-39760138	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs574384388	chr19:39760138-39760139	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs200081180	chr19:39760140-39760141	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs11670676	chr19:39760143-39760144	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs372384345	chr19:39760156-39760157	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs200211932	chr19:39760171-39760172	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs8103362	chr19:39760191-39760192	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546500	chr19:39760288-39760289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs201090196	chr19:39760294-39760295	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs371511696	chr19:39760300-39760301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39756200-39757200	Weak transcription	Right Atrium	heart
2	chr19:39760000-39760200	Enhancers	Lung	lung

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