Variant report

Variant	nsv960559
Chromosome Location	chr17:60350509-60354528
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	BCL11A	chr17:60350711-60350893	GM12878	blood:	n/a	n/a
2	BHLHE40	chr17:60352818-60353029	HepG2	liver:	n/a	n/a
3	EP300	chr17:60352502-60352826	GM12878	blood:	n/a	n/a
4	EP300	chr17:60351540-60351910	GM12878	blood:	n/a	chr17:60351549-60351565 chr17:60351590-60351599
5	EP300	chr17:60350794-60351237	GM12878	blood:	n/a	n/a
6	FOSL2	chr17:60347209-60353906	HepG2	liver:	n/a	chr17:60347245-60347257 chr17:60352632-60352643 chr17:60352137-60352146 chr17:60348579-60348589
7	FOSL2	chr17:60350653-60351158	HepG2	liver:	n/a	n/a
8	GABPA	chr17:60351903-60352043	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr17:60352247-60352889	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr17:60352838-60353000	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr17:60353185-60353381	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr17:60351991-60352200	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr17:60353005-60353408	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr17:60350236-60351551	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr17:60350790-60351155	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr17:60351687-60351878	Hela-S3	cervix:	n/a	n/a
17	JUND	chr17:60351333-60351452	HepG2	liver:	n/a	n/a
18	JUND	chr17:60350607-60351039	HepG2	liver:	n/a	n/a
19	JUND	chr17:60351484-60351684	HepG2	liver:	n/a	n/a
20	JUND	chr17:60353145-60353395	HepG2	liver:	n/a	n/a
21	JUND	chr17:60351530-60351988	HepG2	liver:	n/a	n/a
22	JUND	chr17:60352516-60353107	HepG2	liver:	n/a	chr17:60352632-60352643
23	JUND	chr17:60352503-60352836	HepG2	liver:	n/a	chr17:60352632-60352643
24	JUND	chr17:60354424-60354604	HepG2	liver:	n/a	chr17:60354483-60354494
25	JUND	chr17:60350750-60351071	HepG2	liver:	n/a	n/a
26	NR3C1	chr17:60339947-60352039	A549	lung:	n/a	chr17:60340696-60340705 chr17:60349160-60349173 chr17:60344124-60344137 chr17:60348422-60348429 chr17:60343424-60343441 chr17:60341027-60341040 chr17:60344344-60344359 chr17:60341357-60341383 chr17:60348437-60348450 chr17:60345859-60345872 chr17:60346023-60346036 chr17:60343391-60343404 chr17:60341357-60341383 chr17:60344393-60344400 chr17:60350692-60350705
27	NR3C1	chr17:60342123-60352272	A549	lung:	n/a	chr17:60349160-60349173 chr17:60344124-60344137 chr17:60348422-60348429 chr17:60343424-60343441 chr17:60344344-60344359 chr17:60348437-60348450 chr17:60345859-60345872 chr17:60352154-60352180 chr17:60346023-60346036 chr17:60343391-60343404 chr17:60344393-60344400 chr17:60350692-60350705
28	PAX5	chr17:60352771-60353030	GM12878	blood:	n/a	n/a
29	PAX5	chr17:60352381-60353372	GM12878	blood:	n/a	n/a
30	PAX5	chr17:60352666-60353055	GM12878	blood:	n/a	n/a
31	PAX5	chr17:60352619-60353406	GM12878	blood:	n/a	n/a
32	PAX5	chr17:60350634-60351137	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:60350381-60351273	GM12878	blood:	n/a	n/a
34	POLR2A	chr17:60351539-60351874	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr17:60350539-60351117	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr17:60352764-60353424	GM12878	blood:	n/a	n/a
37	POLR2A	chr17:60352347-60353401	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:60352338-60353377	GM12878	blood:	n/a	n/a
39	POLR2A	chr17:60352073-60353906	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr17:60350399-60351909	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr17:60352812-60353403	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr17:60353107-60353254	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr17:60350274-60351099	Hela-S3	cervix:	n/a	n/a
44	POU2F2	chr17:60351498-60351916	GM12878	blood:	n/a	n/a
45	POU2F2	chr17:60353447-60353774	GM12878	blood:	n/a	n/a
46	POU2F2	chr17:60352228-60353446	GM12878	blood:	n/a	n/a
47	POU2F2	chr17:60350626-60351470	GM12878	blood:	n/a	n/a
48	POU2F2	chr17:60353232-60353373	GM12878	blood:	n/a	n/a
49	POU2F2	chr17:60354395-60354909	GM12878	blood:	n/a	n/a
50	REST	chr17:60348934-60351353	PANC-1	pancreas:	n/a	chr17:60349693-60349706 chr17:60349955-60349964 chr17:60350383-60350396 chr17:60350390-60350403

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60353177-60353227	Hepatocyte	liver:	n/a
2	chr17:60353177-60353227	SK-N-SH	brain:	n/a
3	chr17:60353177-60353227	H1-hESC	embryonic stem cell:	embryo
4	chr17:60353177-60353227	HEK293	kidney:	embryo
5	chr17:60353177-60353227	AG04449	skin:	fetal
6	chr17:60354306-60354356	LNCaP	prostate:	n/a
7	chr17:60354306-60354356	AG04449	skin:	fetal
8	chr17:60353177-60353227	HepG2	liver:	n/a
9	chr17:60354306-60354356	PFSK-1	brain:	n/a
10	chr17:60354306-60354356	HCT-116	colon:	n/a
11	chr17:60354306-60354356	K562	blood:	n/a
12	chr17:60353177-60353227	PANC-1	pancreas:	n/a
13	chr17:60354306-60354356	AG04450	lung:	fetal
14	chr17:60353177-60353227	SKMC	muscle:	n/a
15	chr17:60353177-60353227	ECC-1	luminal epithelium:	n/a
16	chr17:60354306-60354356	BJ	skin:	n/a
17	chr17:60353177-60353227	HRCEpiC	kidney:	n/a
18	chr17:60354306-60354356	BE2_C	brain:	n/a
19	chr17:60354306-60354356	IMR90	lung:	fetal
20	chr17:60354306-60354356	HEK293	kidney:	embryo
21	chr17:60354306-60354356	SK-N-SH	brain:	n/a
22	chr17:60353177-60353227	AG04450	lung:	fetal
23	chr17:60354306-60354356	CMK	blood:	n/a
24	chr17:60353177-60353227	Hela-S3	cervix:	n/a
25	chr17:60353177-60353227	K562	blood:	n/a
26	chr17:60354306-60354356	HCM	heart:	n/a
27	chr17:60354306-60354356	ECC-1	luminal epithelium:	n/a
28	chr17:60353177-60353227	AoSMC	blood vessel:	n/a
29	chr17:60353177-60353227	BJ	skin:	n/a
30	chr17:60353177-60353227	SK-N-SH_RA	brain:	n/a
31	chr17:60353177-60353227	AG09309	skin:	n/a
32	chr17:60354306-60354356	AG09309	skin:	n/a
33	chr17:60354306-60354356	HRPEpiC	eye:	n/a
34	chr17:60353177-60353227	A549	lung:	n/a
35	chr17:60353177-60353227	BE2_C	brain:	n/a
36	chr17:60353177-60353227	ovcar-3	ovarian:	n/a
37	chr17:60354306-60354356	HNPCEpiC	eye:	n/a
38	chr17:60354306-60354356	Hepatocyte	liver:	n/a
39	chr17:60353177-60353227	NHDF-neo	bronchial:	n/a
40	chr17:60354306-60354356	SK-N-MC	brain:	n/a
41	chr17:60353177-60353227	SAEC	small airway:	n/a
42	chr17:60353177-60353227	ProgFib	skin:	n/a
43	chr17:60353177-60353227	HRPEpiC	eye:	n/a
44	chr17:60353177-60353227	HMEC	breast:	n/a
45	chr17:60354306-60354356	HAEpiC	amniotic membrane:	n/a
46	chr17:60354306-60354356	HMEC	breast:	n/a
47	chr17:60354306-60354356	SK-N-SH_RA	brain:	n/a
48	chr17:60354306-60354356	HCPEpiC	choroid plexus:	n/a
49	chr17:60354306-60354356	AoSMC	blood vessel:	n/a
50	chr17:60354306-60354356	NT2-D1	testis:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB3-4	chr17:60353068-60353173	NONHSAT055149
2	lnc-EFCAB3-4	chr17:60353621-60353920	NONHSAT055149
3	lnc-EFCAB3-3	chr17:60354001-60354372	expReg_chr17_10444_+

Variant related genes	Relation type
TBC1D3P2	TF binding region
TBC1D3P2	CpG island

Extended variants
information (count: 123 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550062082	chr17:60351479-60351480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201712090	chr17:60351480-60351481	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563393138	chr17:60351484-60351485	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529186161	chr17:60351523-60351524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548611862	chr17:60351532-60351533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547093140	chr17:60351540-60351541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs76152476	chr17:60351546-60351547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534438802	chr17:60351549-60351550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551031190	chr17:60351552-60351553	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571823946	chr17:60351573-60351574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537207203	chr17:60351574-60351575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557637737	chr17:60351591-60351592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs574298094	chr17:60351594-60351595	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs368847025	chr17:60351603-60351604	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs553432497	chr17:60351619-60351620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs573247163	chr17:60351638-60351639	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs545534024	chr17:60351639-60351640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565194557	chr17:60351654-60351655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs556974685	chr17:60351733-60351734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543302600	chr17:60351790-60351791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563490420	chr17:60351859-60351860	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529187407	chr17:60351862-60351863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542489853	chr17:60351895-60351896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs372634410	chr17:60351951-60351952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs528040458	chr17:60351997-60351998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62069122	chr17:60352002-60352003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112838896	chr17:60352011-60352012	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs62069123	chr17:60352064-60352065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs193177528	chr17:60352085-60352086	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs550932595	chr17:60352109-60352110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184778248	chr17:60352118-60352119	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs540151086	chr17:60352120-60352121	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs115750066	chr17:60352143-60352144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs536968853	chr17:60352171-60352172	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62069124	chr17:60352190-60352191	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189510130	chr17:60352201-60352202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs538988439	chr17:60352221-60352222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs558910776	chr17:60352239-60352240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs575692331	chr17:60352293-60352294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs62069125	chr17:60352362-60352363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs556902713	chr17:60352432-60352433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs144533441	chr17:60352496-60352497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375133046	chr17:60352506-60352507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573472142	chr17:60352534-60352535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs542526415	chr17:60352535-60352536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs559179085	chr17:60352538-60352539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62069126	chr17:60352613-60352614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528077783	chr17:60352645-60352646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs141755565	chr17:60352659-60352660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs564886875	chr17:60352714-60352715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60353000-60353200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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