Variant report

Variant	esv2563566
Chromosome Location	chr1:185783040-185786062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185782674..185783372-chr1:186181707..186182270,2	MCF-7	breast:
2	chr1:185773170..185775878-chr1:185781789..185784081,2	MCF-7	breast:
3	chr1:185782255..185783272-chr1:186181370..186182154,4	MCF-7	breast:
4	chr1:185782651..185783218-chr1:186124715..186125349,2	MCF-7	breast:
5	chr1:185782207..185784224-chr1:186141376..186143598,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368275873	chr1:185783048-185783049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560677760	chr1:185783053-185783054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6677289	chr1:185783060-185783061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560525560	chr1:185783095-185783096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11583047	chr1:185783113-185783114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546344400	chr1:185783152-185783153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191850161	chr1:185783236-185783237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182922699	chr1:185783309-185783310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187989698	chr1:185783316-185783317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147897960	chr1:185783356-185783357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570305923	chr1:185783398-185783399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537726018	chr1:185783409-185783410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80158128	chr1:185783418-185783419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80352715	chr1:185783419-185783420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79059795	chr1:185783420-185783421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151088755	chr1:185783430-185783431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556126899	chr1:185783437-185783438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561499140	chr1:185783504-185783505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72733232	chr1:185783515-185783516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73072023	chr1:185783561-185783562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543012315	chr1:185783813-185783814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76615326	chr1:185783831-185783832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1208456	chr1:185783832-185783833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57781378	chr1:185783841-185783842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578045907	chr1:185783849-185783850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545210739	chr1:185783858-185783859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544273692	chr1:185783865-185783866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563125712	chr1:185783886-185783887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141683914	chr1:185783927-185783928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542485692	chr1:185783983-185783984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562538682	chr1:185783984-185783985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377067947	chr1:185784022-185784023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143113886	chr1:185784032-185784033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532951810	chr1:185784044-185784045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151201391	chr1:185784156-185784157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532225553	chr1:185784158-185784159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192222065	chr1:185784161-185784162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77856587	chr1:185784221-185784222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368669481	chr1:185784265-185784266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560466960	chr1:185784270-185784271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570243398	chr1:185784289-185784290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531152995	chr1:185784291-185784292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185756262	chr1:185784330-185784331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140356162	chr1:185784342-185784343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372156443	chr1:185784373-185784374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535052580	chr1:185784464-185784465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114816803	chr1:185784469-185784470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548925070	chr1:185784499-185784500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567430125	chr1:185784543-185784544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116562943	chr1:185784574-185784575	Weak transcription Enhancers	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185780400-185785000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:185781000-185785200	Weak transcription	NHDF-Ad	bronchial
3	chr1:185782800-185787800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185783000-185783200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:185783000-185783200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:185783000-185783600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:185783600-185785400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:185785000-185787200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:185785200-185786200	Enhancers	NHDF-Ad	bronchial
10	chr1:185785200-185786400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:185785200-185786600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:185785400-185786000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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