Variant report

Variant	esv2762219
Chromosome Location	chr1:216027384-216029905
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	chr1:216029161..216030804-chr1:216033493..216035714,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536604017	chr1:216027440-216027441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547002436	chr1:216027481-216027482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567138044	chr1:216027485-216027486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs539325024	chr1:216027492-216027493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559223276	chr1:216027494-216027495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs575907235	chr1:216027504-216027505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs368510115	chr1:216027511-216027512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542312515	chr1:216027527-216027528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111259654	chr1:216027532-216027533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181045647	chr1:216027549-216027550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573558356	chr1:216027558-216027559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184006338	chr1:216027620-216027621	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542581040	chr1:216027688-216027689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs559400839	chr1:216027722-216027723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572832737	chr1:216027758-216027759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544880114	chr1:216027860-216027861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564784013	chr1:216027873-216027874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs530580413	chr1:216027886-216027887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2365629	chr1:216027887-216027888	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561408149	chr1:216027930-216027931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs530059633	chr1:216027939-216027940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34726633	chr1:216027944-216027945	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566850658	chr1:216027949-216027950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs115710559	chr1:216027990-216027991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216027400-216028000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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