Variant report

Variant	esv3399482
Chromosome Location	chr1:194687529-194691227
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	IRF1	chr1:194690694-194690742	K562	blood:	n/a	n/a
2	POLR2A	chr1:194688413-194688581	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:194689608-194690149	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:194681302..194685188-chr1:194688470..194690417,3	K562	blood:
2	chr1:194688412..194690986-chr1:194719198..194722063,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-13	chr1:194687925-194688366	NONHSAT008586

Variant related genes	Relation type
ENSG00000228167	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34947898	chr1:194687953-194687954	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs570990135	chr1:194687962-194687963	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs536054128	chr1:194687999-194688000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs538479737	chr1:194688020-194688021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148889754	chr1:194688031-194688032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs552625716	chr1:194688046-194688047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs11555421	chr1:194688056-194688057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536552900	chr1:194688057-194688058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs11555423	chr1:194688059-194688060	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs375190339	chr1:194688080-194688081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs554529016	chr1:194688107-194688108	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs576427823	chr1:194688125-194688126	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs11555420	chr1:194688130-194688131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs143527065	chr1:194688145-194688146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs11555419	chr1:194688164-194688165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565410083	chr1:194688166-194688167	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs11555416	chr1:194688184-194688185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs192801967	chr1:194688213-194688214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs570826989	chr1:194688248-194688249	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs80100429	chr1:194688249-194688250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs6658573	chr1:194688265-194688266	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs184391792	chr1:194688323-194688324	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs189153730	chr1:194688355-194688356	Inactive region	lncRNA	n/a	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
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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