Variant report

Variant	nsv828045
Chromosome Location	chr17:50930308-50935141
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	CEBPB	chr17:50932919-50933204	IMR90	lung:	n/a	chr17:50933077-50933088
2	CEBPB	chr17:50932919-50933264	HepG2	liver:	n/a	chr17:50933077-50933088
3	CTCF	chr17:50931025-50931086	Fibrobl	skin:	n/a	n/a
4	GATA3	chr17:50930632-50930648	SH-SY5Y	brain:	n/a	n/a
5	JUND	chr17:50932916-50933144	HepG2	liver:	n/a	n/a
6	MAFK	chr17:50932891-50932968	HepG2	liver:	n/a	n/a
7	MAFK	chr17:50934291-50934608	HepG2	liver:	n/a	n/a
8	MYC	chr17:50931081-50931119	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:50933881-50933912	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000226364	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547720751	chr17:50930310-50930311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530813973	chr17:50930328-50930329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552224773	chr17:50930374-50930375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192538593	chr17:50930383-50930384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567849733	chr17:50930482-50930483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536777490	chr17:50930495-50930496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556716199	chr17:50930525-50930526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182133195	chr17:50930546-50930547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144858870	chr17:50930548-50930549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369851951	chr17:50930592-50930593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539045537	chr17:50930593-50930594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558865984	chr17:50930602-50930603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570627309	chr17:50930613-50930614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139382019	chr17:50930672-50930673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62059257	chr17:50930691-50930692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560962471	chr17:50930702-50930703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574273695	chr17:50930765-50930766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148606156	chr17:50930780-50930781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563057079	chr17:50930781-50930782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565828516	chr17:50930804-50930805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532036639	chr17:50930809-50930810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536507811	chr17:50930838-50930839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551887086	chr17:50930853-50930854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11397637	chr17:50930862-50930863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs5820956	chr17:50930873-50930874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375300961	chr17:50930874-50930875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559297024	chr17:50930909-50930910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554570086	chr17:50930931-50930932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186957513	chr17:50931031-50931032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35250963	chr17:50931080-50931081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35914127	chr17:50931100-50931101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567886253	chr17:50931103-50931104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536853894	chr17:50931106-50931107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36031798	chr17:50931118-50931119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34457742	chr17:50931135-50931136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539122117	chr17:50931144-50931145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558723500	chr17:50931197-50931198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139706976	chr17:50931198-50931199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111537171	chr17:50931199-50931200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566009514	chr17:50931889-50931890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535036642	chr17:50931907-50931908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144044993	chr17:50931914-50931915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568019407	chr17:50931935-50931936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34549727	chr17:50931955-50931956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536946888	chr17:50931963-50931964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556780225	chr17:50931971-50931972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371718212	chr17:50931982-50931983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545608627	chr17:50931990-50931991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193049606	chr17:50931991-50931992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553055029	chr17:50932005-50932006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	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
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	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
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:50920200-50931200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:50931800-50932600	Weak transcription	Psoas Muscle	Psoas
3	chr17:50933000-50933200	Enhancers	Psoas Muscle	Psoas

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