Variant report

Variant	esv3354316
Chromosome Location	chr1:223551529-223552627
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	chr1:223550342..223552222-chr1:223556341..223557941,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 95 )

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	rs558526726	chr1:223551619-223551620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184127550	chr1:223551626-223551627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375312308	chr1:223551632-223551633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11261265	chr1:223551652-223551653	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552841536	chr1:223551661-223551662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113302908	chr1:223551701-223551702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573169564	chr1:223551709-223551710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542479055	chr1:223551717-223551718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36101215	chr1:223551743-223551744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557558673	chr1:223551761-223551762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188636945	chr1:223551772-223551773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191465148	chr1:223551847-223551848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576008085	chr1:223551886-223551887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546138240	chr1:223551908-223551909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201885360	chr1:223551936-223551937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563966402	chr1:223551937-223551938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112433433	chr1:223551946-223551947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199845361	chr1:223551980-223551981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201183703	chr1:223551983-223551984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568741050	chr1:223551985-223551986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528523441	chr1:223552117-223552118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540598945	chr1:223552212-223552213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561881174	chr1:223552216-223552217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529313457	chr1:223552245-223552246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75790775	chr1:223552267-223552268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59329897	chr1:223552307-223552308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530800494	chr1:223552362-223552363	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21098271	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
Endometrioid adenocarcinoma	16974079	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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223550400-223552200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223552200-223552400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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