Variant report

Variant	nsv960499
Chromosome Location	chr17:46767948-46781062
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	E2F4	chr17:46773904-46774078	MCF10A-Er-Src	breast:	n/a	n/a
2	EGR1	chr17:46779287-46779515	K562	blood:	n/a	n/a
3	FOS	chr17:46773754-46774089	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:46773754-46774114	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr17:46773857-46774089	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr17:46773792-46774094	MCF10A-Er-Src	breast:	n/a	n/a
7	FOXA2	chr17:46770499-46770979	A549	lung:	n/a	n/a
8	KAP1	chr17:46767898-46768173	U2OS	brain:	n/a	n/a
9	MAFF	chr17:46769509-46769765	K562	blood:	n/a	chr17:46769602-46769620
10	MAFF	chr17:46769465-46769767	HepG2	liver:	n/a	chr17:46769602-46769620
11	MAFK	chr17:46769542-46769687	H1-hESC	embryonic stem cell:	n/a	chr17:46769604-46769619
12	MAFK	chr17:46769448-46769700	K562	blood:	n/a	chr17:46769604-46769619
13	MAFK	chr17:46769521-46769772	Hela-S3	cervix:	n/a	chr17:46769604-46769619
14	MAFK	chr17:46769432-46769778	IMR90	lung:	n/a	chr17:46769604-46769619
15	MAFK	chr17:46769448-46769778	HepG2	liver:	n/a	chr17:46769604-46769619
16	MAFK	chr17:46769430-46769796	HepG2	liver:	n/a	chr17:46769604-46769619
17	MYC	chr17:46768249-46768303	MCF-7	breast:	n/a	n/a
18	RCOR1	chr17:46772286-46772290	K562	blood:	n/a	n/a
19	SETDB1	chr17:46772062-46772449	U2OS	brain:	n/a	n/a
20	SRF	chr17:46772096-46772494	ECC-1	luminal epithelium:	n/a	n/a
21	STAT3	chr17:46769949-46770149	MCF10A-Er-Src	breast:	n/a	n/a
22	USF1	chr17:46768138-46768321	HepG2	liver:	n/a	chr17:46768234-46768245
23	USF1	chr17:46768113-46768390	K562	blood:	n/a	chr17:46768234-46768245
24	USF1	chr17:46768080-46768426	K562	blood:	n/a	chr17:46768234-46768245
25	YY1	chr17:46772364-46772614	K562	blood:	n/a	n/a
26	YY1	chr17:46772360-46772531	K562	blood:	n/a	n/a
27	ZNF384	chr17:46772316-46772516	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46779621..46782109-chr17:46788288..46789802,2	K562	blood:
2	chr17:46770373..46774309-chr17:46775013..46779321,3	K562	blood:
3	chr17:46770373..46774309-chr17:46775013..46779321,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALCOCO2-12	chr17:46773611-46774931	ucscGeneNc_uc002itt_1
2	lnc-PRAC-1	chr17:46768478-46769056	NONHSAT054466
3	lnc-CALCOCO2-4	chr17:46777978-46778062	XLOC_012226
4	lnc-CALCOCO2-4	chr17:46777974-46778058	ENSG00000262745.1
5	lnc-CALCOCO2-12	chr17:46769075-46770280	ucscGeneNc_uc002itt_1
6	lnc-CALCOCO2-12	chr17:46771967-46772084	ucscGeneNc_uc002itt_1

Variant related genes	Relation type
RPL9P28	TF binding region
ENSG00000244649	TF binding region
ENSG00000244559	TF binding region
ZNF828	miRNA target sites

Extended variants
information (count: 494 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:494 , 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	rs554571067	chr17:46767990-46767991	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574306339	chr17:46767991-46767992	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537160512	chr17:46767992-46767993	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs72831830	chr17:46767999-46768000	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577070938	chr17:46768064-46768065	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs115314437	chr17:46768065-46768066	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs147859000	chr17:46768085-46768086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs573499577	chr17:46768107-46768108	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs182749745	chr17:46768108-46768109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574100631	chr17:46768148-46768149	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs187772412	chr17:46768150-46768151	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530800593	chr17:46768155-46768156	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551140269	chr17:46768159-46768160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537903696	chr17:46768176-46768177	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556150206	chr17:46768187-46768188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs59198939	chr17:46768188-46768189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs111299261	chr17:46768191-46768192	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs397946013	chr17:46768201-46768202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs564549488	chr17:46768222-46768223	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs563742790	chr17:46768224-46768225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs369809832	chr17:46768230-46768231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs552415654	chr17:46768240-46768241	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs141413846	chr17:46768248-46768249	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534920099	chr17:46768285-46768286	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs548145784	chr17:46768287-46768288	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531108463	chr17:46768303-46768304	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112787833	chr17:46768305-46768306	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536641113	chr17:46768331-46768332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556668037	chr17:46768337-46768338	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs138969556	chr17:46768361-46768362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113651069	chr17:46768422-46768423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111277352	chr17:46768423-46768424	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs576518617	chr17:46768447-46768448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539115100	chr17:46768495-46768496	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs553151784	chr17:46768517-46768518	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs573312993	chr17:46768526-46768527	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs7209659	chr17:46768528-46768529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs117867461	chr17:46768540-46768541	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs3096650	chr17:46768637-46768638	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575622025	chr17:46768669-46768670	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs58976322	chr17:46768685-46768686	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528714260	chr17:46768690-46768691	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564438921	chr17:46768734-46768735	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs192633501	chr17:46768756-46768757	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs547068944	chr17:46768759-46768760	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs559510197	chr17:46768828-46768829	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs184563525	chr17:46768849-46768850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs7208024	chr17:46768854-46768855	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7213972	chr17:46768899-46768900	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75580788	chr17:46769001-46769002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	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
Breast cancer	21858162	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
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	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
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46756800-46786400	Weak transcription	Colonic Mucosa	Colon
2	chr17:46757000-46770800	Weak transcription	A549	lung
3	chr17:46765000-46771800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:46765200-46768600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:46765600-46782600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr17:46770800-46771000	Enhancers	A549	lung
7	chr17:46772200-46773000	Active TSS	K562	blood
8	chr17:46779400-46779600	Bivalent Enhancer	K562	blood

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