Variant report

Variant	nsv511720
Chromosome Location	chr1:179606860-179608694
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	FOS	chr1:179606656-179606969	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr1:179606654-179606915	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr1:179606666-179606958	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:179606609-179606959	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:179607077-179607158	Gliobla	brain:	n/a	n/a
6	POLR2A	chr1:179607159-179607183	Gliobla	brain:	n/a	n/a
7	USF1	chr1:179607655-179607877	K562	blood:	n/a	n/a
8	WRNIP1	chr1:179607176-179607198	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179601476..179603491-chr1:179604853..179608456,3	MCF-7	breast:

Variant related genes	Relation type
TDRD5	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78778000	chr1:179606865-179606866	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141846075	chr1:179606949-179606950	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185365683	chr1:179606971-179606972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79242819	chr1:179606986-179606987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190191347	chr1:179607005-179607006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74132223	chr1:179607007-179607008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146314201	chr1:179607025-179607026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563608207	chr1:179607052-179607053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116307942	chr1:179607098-179607099	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551802982	chr1:179607109-179607110	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139525150	chr1:179607159-179607160	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs149971001	chr1:179607160-179607161	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs187734698	chr1:179607161-179607162	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34180216	chr1:179607725-179607726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112411800	chr1:179607792-179607793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542122860	chr1:179607793-179607794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179604200-179607200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:179605400-179607200	Enhancers	Fetal Heart	heart
3	chr1:179606600-179607200	Enhancers	NHEK	skin

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