Variant report

Variant	nsv945682
Chromosome Location	chr1:239349880-239355435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:239347033..239349872-chr1:239353047..239355159,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573888607	chr1:239349881-239349882	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534761609	chr1:239349956-239349957	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12044393	chr1:239349982-239349983	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2664055	chr1:239349993-239349994	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546214423	chr1:239350009-239350010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373514287	chr1:239350011-239350012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576359251	chr1:239350079-239350080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543776102	chr1:239350082-239350083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367973199	chr1:239350108-239350109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562006421	chr1:239350137-239350138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181297729	chr1:239350147-239350148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547585800	chr1:239350150-239350151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559065978	chr1:239350196-239350197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532862768	chr1:239350224-239350225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146389589	chr1:239350266-239350267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533965243	chr1:239350274-239350275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559613822	chr1:239350341-239350342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79834689	chr1:239350350-239350351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537009103	chr1:239350437-239350438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186545889	chr1:239350449-239350450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567561747	chr1:239350462-239350463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2664056	chr1:239350538-239350539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553187660	chr1:239350545-239350546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111280443	chr1:239350640-239350641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2664057	chr1:239350728-239350729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558198619	chr1:239350743-239350744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16837972	chr1:239350770-239350771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239345800-239350800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:239347200-239350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:239348200-239350000	Active TSS	Liver	Liver

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