Variant report

Variant	esv3427780
Chromosome Location	chr1:190251129-190254727
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	chr1:190116840..190117442-chr1:190254256..190254849,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188691869	chr1:190251149-190251150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537610441	chr1:190251182-190251183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191600508	chr1:190251211-190251212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150932373	chr1:190251238-190251239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376214371	chr1:190251265-190251266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527881297	chr1:190251301-190251302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12744731	chr1:190251309-190251310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544324325	chr1:190251310-190251311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577313426	chr1:190251322-190251323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190111122	chr1:190251337-190251338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11421241	chr1:190251378-190251379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533169914	chr1:190251413-190251414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371829755	chr1:190251430-190251431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568821142	chr1:190251434-190251435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6672733	chr1:190251441-190251442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554846708	chr1:190251584-190251585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34964795	chr1:190251653-190251654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568193462	chr1:190251717-190251718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534779079	chr1:190251791-190251792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374570890	chr1:190251805-190251806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533975972	chr1:190251860-190251861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139449356	chr1:190251925-190251926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374945977	chr1:190251941-190251942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552978286	chr1:190251944-190251945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182164469	chr1:190251967-190251968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556151610	chr1:190251971-190251972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576097111	chr1:190251980-190251981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs151300936	chr1:190252064-190252065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187202609	chr1:190252128-190252129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369626610	chr1:190252130-190252131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190373112	chr1:190252152-190252153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181029248	chr1:190252179-190252180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564262395	chr1:190252195-190252196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542530878	chr1:190252208-190252209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533213643	chr1:190252217-190252218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs651660	chr1:190252220-190252221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs185249410	chr1:190252351-190252352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529229672	chr1:190252433-190252434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149697383	chr1:190252447-190252448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190352592	chr1:190252456-190252457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76421828	chr1:190252513-190252514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181157412	chr1:190252533-190252534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186147387	chr1:190252595-190252596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539579654	chr1:190252601-190252602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576163092	chr1:190252608-190252609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543650707	chr1:190252616-190252617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556288074	chr1:190252624-190252625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576132220	chr1:190252686-190252687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147794558	chr1:190252700-190252701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555800641	chr1:190252721-190252722	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
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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190249800-190267200	Weak transcription	Fetal Intestine Small	intestine

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