Variant report

Variant	esv3430674
Chromosome Location	chr1:196976079-196978177
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	chr1:196977266..196979425-chr20:45828058..45830891,2	MCF-7	breast:
2	chr1:196970643..196972598-chr1:196974832..196977798,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537778200	chr1:196976101-196976102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141105172	chr1:196976128-196976129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150279830	chr1:196976165-196976166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534884145	chr1:196976171-196976172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553051874	chr1:196976182-196976183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574551814	chr1:196976211-196976212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541873198	chr1:196976212-196976213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556717264	chr1:196976213-196976214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550336682	chr1:196976216-196976217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370020897	chr1:196976217-196976218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575525507	chr1:196976244-196976245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543731700	chr1:196976245-196976246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182989246	chr1:196976254-196976255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376569484	chr1:196976262-196976263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377689856	chr1:196976298-196976299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117288918	chr1:196976319-196976320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541188392	chr1:196976379-196976380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559507908	chr1:196976418-196976419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78497068	chr1:196976442-196976443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547954704	chr1:196976449-196976450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563330932	chr1:196976463-196976464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35031482	chr1:196976497-196976498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186252882	chr1:196976565-196976566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552499482	chr1:196976569-196976570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570762799	chr1:196976571-196976572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190788681	chr1:196976583-196976584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534898152	chr1:196976625-196976626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546755845	chr1:196976648-196976649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568479981	chr1:196976652-196976653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182162377	chr1:196976680-196976681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572541553	chr1:196976684-196976685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111325021	chr1:196976731-196976732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557157554	chr1:196976752-196976753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187953949	chr1:196976768-196976769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192470558	chr1:196976774-196976775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367670637	chr1:196976879-196976880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145448534	chr1:196976976-196976977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28617548	chr1:196977040-196977041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541251811	chr1:196977065-196977066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111379055	chr1:196977071-196977072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188354928	chr1:196977128-196977129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557008677	chr1:196977166-196977167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192988648	chr1:196977181-196977182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111854144	chr1:196977227-196977228	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530529701	chr1:196977250-196977251	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146954715	chr1:196977282-196977283	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115844193	chr1:196977334-196977335	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528731808	chr1:196977429-196977430	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546865819	chr1:196977477-196977478	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568669985	chr1:196977492-196977493	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196975400-196977200	Weak transcription	Liver	Liver
2	chr1:196977200-196978600	Strong transcription	Liver	Liver

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