Variant report

Variant	esv12516
Chromosome Location	chr1:190638400-190646807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190639004..190639517-chr14:55272079..55272672,2	MCF-7	breast:
2	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
3	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:
4	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
5	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577505649	chr1:190645830-190645831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35956572	chr1:190645895-190645896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564391553	chr1:190645904-190645905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544399125	chr1:190645927-190645928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149374086	chr1:190645968-190645969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144085339	chr1:190646005-190646006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56075203	chr1:190646018-190646019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561818932	chr1:190646024-190646025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527493258	chr1:190646030-190646031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148247061	chr1:190646031-190646032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141235823	chr1:190646081-190646082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187554596	chr1:190646086-190646087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71637240	chr1:190646135-190646136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150802051	chr1:190646147-190646148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191720255	chr1:190646162-190646163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35619135	chr1:190646205-190646206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398049910	chr1:190646218-190646219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114335870	chr1:190646224-190646225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560570075	chr1:190646225-190646226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183890418	chr1:190646262-190646263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568272138	chr1:190646271-190646272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534115017	chr1:190646274-190646275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528944674	chr1:190646304-190646305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553989782	chr1:190646346-190646347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562885805	chr1:190646376-190646377	Enhancers	n/a	n/a	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
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
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
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	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
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190645800-190646400	Enhancers	H1 Cell Line	embryonic stem cell

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