Variant report

Variant	esv3384292
Chromosome Location	chr1:186730322-186730904
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	chr1:186729559..186732303-chr1:186735721..186738700,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202056837	chr1:186730342-186730343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75125155	chr1:186730352-186730353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76255391	chr1:186730360-186730361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1883272	chr1:186730382-186730383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs11589346	chr1:186730487-186730488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553731492	chr1:186730584-186730585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551156113	chr1:186730629-186730630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79878277	chr1:186730651-186730652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12072772	chr1:186730697-186730698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573171803	chr1:186730797-186730798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540538198	chr1:186730798-186730799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12072820	chr1:186730810-186730811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558854051	chr1:186730827-186730828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577000482	chr1:186730847-186730848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372720412	chr1:186730848-186730849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555634989	chr1:186730868-186730869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186653997	chr1:186730869-186730870	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186715600-186730800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186722600-186730800	Weak transcription	A549	lung
3	chr1:186729000-186731000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:186729200-186731200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:186729600-186731600	Enhancers	GM12878-XiMat	blood
6	chr1:186730000-186730400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:186730600-186734000	Enhancers	Hela-S3	cervix
8	chr1:186730800-186731000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:186730800-186733200	Enhancers	HUVEC	blood vessel
10	chr1:186730800-186733600	Enhancers	A549	lung

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