Variant report

Variant	esv17886
Chromosome Location	chr1:190376759-190381486
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	chr1:190378593..190380350-chr1:190390238..190392382,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs114926040	chr1:190376817-190376818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551809338	chr1:190376842-190376843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565293586	chr1:190376876-190376877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530896431	chr1:190376899-190376900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145739971	chr1:190376954-190376955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570002880	chr1:190376969-190376970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373581632	chr1:190376998-190376999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187864534	chr1:190377008-190377009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146574005	chr1:190377083-190377084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577889153	chr1:190377089-190377090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544395913	chr1:190377149-190377150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34343187	chr1:190377150-190377151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56141380	chr1:190377169-190377170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139375910	chr1:190377170-190377171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12061525	chr1:190377196-190377197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534430081	chr1:190377214-190377215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557398224	chr1:190377221-190377222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570933301	chr1:190377253-190377254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1148618	chr1:190377276-190377277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556528164	chr1:190377296-190377297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574298252	chr1:190377301-190377302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200844202	chr1:190377313-190377314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543256288	chr1:190377318-190377319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148939295	chr1:190377319-190377320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370918362	chr1:190377333-190377334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71891209	chr1:190377334-190377335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55888379	chr1:190377337-190377338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553299653	chr1:190377341-190377342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1171025	chr1:190377342-190377343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556060604	chr1:190377343-190377344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs55768635	chr1:190377347-190377348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534253339	chr1:190377350-190377351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191573799	chr1:190377374-190377375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184389196	chr1:190377425-190377426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188057949	chr1:190377426-190377427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111720705	chr1:190377428-190377429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370333908	chr1:190377459-190377460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192840007	chr1:190377469-190377470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1148619	chr1:190377485-190377486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557017106	chr1:190377525-190377526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185202694	chr1:190377548-190377549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188746643	chr1:190377554-190377555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528263632	chr1:190377564-190377565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575177388	chr1:190377571-190377572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551141477	chr1:190377578-190377579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571048253	chr1:190377634-190377635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536744527	chr1:190377689-190377690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556540128	chr1:190377722-190377723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576092854	chr1:190377740-190377741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545623350	chr1:190377744-190377745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190365000-190380200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190379000-190379400	Enhancers	Fetal Intestine Large	intestine
3	chr1:190379400-190420000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:190380200-190380400	Enhancers	Fetal Intestine Small	intestine

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