Variant report

Variant	esv3353727
Chromosome Location	chr1:195878029-195881627
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	chr1:195880791..195883769-chr1:195888416..195890457,2	MCF-7	breast:

Extended variants
information (count: 157 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs4451534	chr1:195878224-195878225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529291424	chr1:195878303-195878304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550636617	chr1:195878308-195878309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11484889	chr1:195878322-195878323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150651276	chr1:195878346-195878347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533482441	chr1:195878359-195878360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552056758	chr1:195878431-195878432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116613663	chr1:195878478-195878479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76505048	chr1:195878502-195878503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114135102	chr1:195878512-195878513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568040729	chr1:195878524-195878525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140080692	chr1:195878547-195878548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189977354	chr1:195878560-195878561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182447155	chr1:195878578-195878579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570483723	chr1:195878583-195878584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528088076	chr1:195878589-195878590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539524665	chr1:195878597-195878598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201501116	chr1:195878626-195878627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141995125	chr1:195878668-195878669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546660730	chr1:195878672-195878673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532522539	chr1:195878754-195878755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573139631	chr1:195878757-195878758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540520005	chr1:195878837-195878838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562070243	chr1:195878877-195878878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568074401	chr1:195878976-195878977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573679775	chr1:195878985-195878986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544246421	chr1:195879078-195879079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540012896	chr1:195879160-195879161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562922300	chr1:195879193-195879194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187763890	chr1:195879262-195879263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114764887	chr1:195879294-195879295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564124525	chr1:195879338-195879339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528323322	chr1:195879365-195879366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546901328	chr1:195879381-195879382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374707464	chr1:195879387-195879388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146309253	chr1:195879401-195879402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190984780	chr1:195879431-195879432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550261776	chr1:195879459-195879460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568846530	chr1:195879460-195879461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371721194	chr1:195879469-195879470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539148745	chr1:195879484-195879485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557878809	chr1:195879530-195879531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12408867	chr1:195879567-195879568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371551099	chr1:195879604-195879605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534155416	chr1:195879664-195879665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375834611	chr1:195879690-195879691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561652503	chr1:195879716-195879717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139478593	chr1:195879782-195879783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529112598	chr1:195879830-195879831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368891032	chr1:195879877-195879878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Melanoma	20688739	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195876800-195878400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:195876800-195878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:195876800-195878400	Enhancers	NHEK	skin
4	chr1:195876800-195878600	Enhancers	HMEC	breast
5	chr1:195877000-195878600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:195877400-195878800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:195877400-195878800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:195877600-195878400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:195877600-195878400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:195877600-195878600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:195878000-195885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:195878600-195891400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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