Variant report

Variant	esv2830096
Chromosome Location	chr1:216454483-216475542
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	chr1:216457785..216460190-chr1:216476621..216478590,2	MCF-7	breast:

Extended variants
information (count: 193 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369109727	chr1:216458600-216458601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs548619228	chr1:216458614-216458615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs143476172	chr1:216458615-216458616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567600760	chr1:216458619-216458620	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs6660406	chr1:216458622-216458623	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6703213	chr1:216458649-216458650	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147985229	chr1:216458666-216458667	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs552197694	chr1:216458736-216458737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs1172833	chr1:216458762-216458763	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150503670	chr1:216458765-216458766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs138498740	chr1:216458766-216458767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143056369	chr1:216458781-216458782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533903346	chr1:216458783-216458784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146124270	chr1:216458789-216458790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs577556959	chr1:216458829-216458830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546438888	chr1:216458844-216458845	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538566501	chr1:216458852-216458853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576349238	chr1:216458861-216458862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140108863	chr1:216458870-216458871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561771961	chr1:216458873-216458874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs192167164	chr1:216458892-216458893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs143714777	chr1:216458956-216458957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559874243	chr1:216458994-216458995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs199917829	chr1:216459021-216459022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532176947	chr1:216459026-216459027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374578888	chr1:216459029-216459030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs569073279	chr1:216459031-216459032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183940925	chr1:216459043-216459044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547855339	chr1:216459074-216459075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188665166	chr1:216459086-216459087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533866571	chr1:216459104-216459105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs553917696	chr1:216459106-216459107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567636285	chr1:216459109-216459110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144718844	chr1:216459131-216459132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148529155	chr1:216459133-216459134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs556748389	chr1:216459162-216459163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576637566	chr1:216459187-216459188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs115253334	chr1:216459189-216459190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561735057	chr1:216459197-216459198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112680869	chr1:216462419-216462420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17597445	chr1:216462424-216462425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372855671	chr1:216462437-216462438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557846954	chr1:216462462-216462463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552585368	chr1:216462487-216462488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111321410	chr1:216462514-216462515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572584643	chr1:216462536-216462537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12123574	chr1:216462537-216462538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537532647	chr1:216462550-216462551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565433898	chr1:216462565-216462566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375868268	chr1:216462581-216462582	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pleomorphic liposarcoma	18784837	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216458600-216459200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:216462400-216463000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:216466600-216466800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:216466800-216467000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:216466800-216467800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:216466800-216467800	Enhancers	Hela-S3	cervix
7	chr1:216467000-216467200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:216467200-216467800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:216473600-216475200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:216475400-216475800	Enhancers	Fetal Heart	heart

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