Variant report

Variant	esv2468461
Chromosome Location	chr1:185766507-185768044
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	chr1:185766558..185768879-chr1:185770571..185773345,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561594680	chr1:185766518-185766519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7544529	chr1:185766521-185766522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7544533	chr1:185766526-185766527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs148123878	chr1:185766528-185766529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142802572	chr1:185766548-185766549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552240906	chr1:185766554-185766555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552429286	chr1:185766567-185766568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184821379	chr1:185766583-185766584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7544808	chr1:185766793-185766794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550156286	chr1:185766799-185766800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369659792	chr1:185766803-185766804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7511660	chr1:185766811-185766812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187686938	chr1:185766820-185766821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147411646	chr1:185766821-185766822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554017352	chr1:185766825-185766826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553624371	chr1:185766864-185766865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577838085	chr1:185766955-185766956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11800969	chr1:185766967-185766968	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4007589	chr1:185767014-185767015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554642281	chr1:185767023-185767024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576422188	chr1:185767066-185767067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61829880	chr1:185767070-185767071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35031310	chr1:185767098-185767099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371612151	chr1:185767129-185767130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376418497	chr1:185767152-185767153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34479277	chr1:185767165-185767166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6676349	chr1:185767207-185767208	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555338323	chr1:185767258-185767259	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573595895	chr1:185767266-185767267	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541105005	chr1:185767275-185767276	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377217227	chr1:185767295-185767296	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559048234	chr1:185767299-185767300	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6689359	chr1:185767324-185767325	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10911775	chr1:185767344-185767345	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546000629	chr1:185767375-185767376	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564396387	chr1:185767441-185767442	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143745897	chr1:185767447-185767448	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61829881	chr1:185767457-185767458	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568435461	chr1:185767459-185767460	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529307190	chr1:185767464-185767465	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6700856	chr1:185767504-185767505	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147132611	chr1:185767582-185767583	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539610472	chr1:185767583-185767584	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559881112	chr1:185767708-185767709	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557994097	chr1:185767723-185767724	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185620644	chr1:185767775-185767776	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6677183	chr1:185767780-185767781	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2129126	chr1:185767785-185767786	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555408835	chr1:185767825-185767826	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144327153	chr1:185767870-185767871	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Bladder cancer	19088036	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
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185755400-185766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:185759200-185767000	Weak transcription	Fetal Lung	lung
3	chr1:185764800-185774800	Weak transcription	Aorta	Aorta
4	chr1:185766000-185767200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:185766600-185768400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185767200-185768600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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