Variant report

Variant	nsv159951
Chromosome Location	chr1:176236759-176239800
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	STAT3	chr1:176238656-176238924	MCF10A-Er-Src	breast:	n/a	n/a
2	ZNF384	chr1:176236544-176236854	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176232758..176235577-chr1:176236564..176239265,2	K562	blood:

Variant related genes	Relation type
ENSG00000227815	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544679004	chr1:176236831-176236832	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563380840	chr1:176236865-176236866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141940832	chr1:176236871-176236872	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577111559	chr1:176236876-176236877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545977047	chr1:176236885-176236886	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs12132620	chr1:176236904-176236905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537858036	chr1:176236925-176236926	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554312181	chr1:176236926-176236927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567959328	chr1:176236963-176236964	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528366041	chr1:176236972-176236973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548233979	chr1:176236979-176236980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs113882323	chr1:176236991-176236992	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs791520	chr1:176236992-176236993	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553591580	chr1:176237004-176237005	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs550647691	chr1:176237019-176237020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570404803	chr1:176237029-176237030	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140052350	chr1:176237054-176237055	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116680668	chr1:176237079-176237080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189978959	chr1:176237081-176237082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145012143	chr1:176238660-176238661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs180770277	chr1:176238691-176238692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs149098782	chr1:176238706-176238707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559991414	chr1:176238743-176238744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575415364	chr1:176238785-176238786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560541337	chr1:176238832-176238833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376197753	chr1:176238833-176238834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs531355165	chr1:176238835-176238836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185003995	chr1:176238842-176238843	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563717760	chr1:176238852-176238853	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs532899723	chr1:176238872-176238873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539932273	chr1:176238905-176238906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
early-passage human iPS cells	21368824	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176236600-176237200	Active TSS	K562	blood

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