Variant report

Variant	esv3403572
Chromosome Location	chr1:242916208-242918050
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	chr1:242907367..242907987-chr1:242917774..242918489,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370886735	chr1:242916233-242916234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569915760	chr1:242916273-242916274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529199197	chr1:242916284-242916285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538592396	chr1:242916317-242916318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548563970	chr1:242916355-242916356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374185398	chr1:242916369-242916370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575216714	chr1:242916389-242916390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs570995865	chr1:242916390-242916391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534323622	chr1:242916406-242916407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557404589	chr1:242916409-242916410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182006562	chr1:242916412-242916413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537636931	chr1:242916444-242916445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12740529	chr1:242916457-242916458	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574272078	chr1:242916458-242916459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs12138319	chr1:242916481-242916482	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185162290	chr1:242916490-242916491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573226724	chr1:242916504-242916505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs79177807	chr1:242916507-242916508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs12138325	chr1:242916512-242916513	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189575913	chr1:242916527-242916528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543577983	chr1:242916567-242916568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs10926843	chr1:242916568-242916569	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182552943	chr1:242916573-242916574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548821176	chr1:242916602-242916603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565661505	chr1:242916607-242916608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528045791	chr1:242916619-242916620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550998245	chr1:242916639-242916640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34060914	chr1:242916659-242916660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35000997	chr1:242916662-242916663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571299231	chr1:242916665-242916666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116168746	chr1:242916684-242916685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112633141	chr1:242916699-242916700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185272089	chr1:242916716-242916717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567718230	chr1:242916719-242916720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565915675	chr1:242916720-242916721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536842063	chr1:242916735-242916736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553674343	chr1:242916736-242916737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150528238	chr1:242916762-242916763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539017120	chr1:242916786-242916787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200818912	chr1:242916791-242916792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67201873	chr1:242916801-242916802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199983226	chr1:242916802-242916803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191160143	chr1:242916808-242916809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544416481	chr1:242916836-242916837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183813543	chr1:242916854-242916855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573476306	chr1:242916871-242916872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1034213	chr1:242916876-242916877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75410814	chr1:242916946-242916947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528398191	chr1:242916949-242916950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80005006	chr1:242916966-242916967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	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
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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242915800-242916600	ZNF genes & repeats	HSMM	muscle
2	chr1:242916600-242917200	Weak transcription	HSMM	muscle
3	chr1:242917200-242917400	Enhancers	HSMM	muscle
4	chr1:242917200-242917600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:242917400-242917800	Weak transcription	HSMM	muscle
6	chr1:242917600-242917800	Enhancers	HSMMtube	muscle
7	chr1:242917600-242918000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:242917800-242918000	Enhancers	HSMM	muscle
9	chr1:242918000-242918800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:242918000-242919400	Weak transcription	HSMM	muscle

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