Variant report

Variant	esv3432577
Chromosome Location	chr1:190263929-190269727
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	chr1:190266037..190267895-chr1:190270389..190272981,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55883308	chr1:190263977-190263978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540961513	chr1:190264021-190264022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145575488	chr1:190264025-190264026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577388007	chr1:190264065-190264066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535249894	chr1:190264070-190264071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191957155	chr1:190264085-190264086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12074400	chr1:190264185-190264186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531871692	chr1:190264196-190264197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141295720	chr1:190264221-190264222	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561776201	chr1:190264232-190264233	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79111732	chr1:190264238-190264239	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546508690	chr1:190264242-190264243	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368851204	chr1:190264304-190264305	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138184026	chr1:190264331-190264332	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143467037	chr1:190264335-190264336	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552309761	chr1:190264363-190264364	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539299640	chr1:190264379-190264380	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537972683	chr1:190264385-190264386	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554688367	chr1:190264441-190264442	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6684241	chr1:190264502-190264503	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183020683	chr1:190264581-190264582	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188041535	chr1:190264703-190264704	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72729190	chr1:190264709-190264710	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565179975	chr1:190264742-190264743	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78150981	chr1:190264749-190264750	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576541165	chr1:190264758-190264759	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541955525	chr1:190264797-190264798	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12043768	chr1:190264816-190264817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148181425	chr1:190264874-190264875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527704104	chr1:190264923-190264924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547340429	chr1:190264950-190264951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560196220	chr1:190264999-190265000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532479255	chr1:190265003-190265004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77252568	chr1:190265041-190265042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs80343259	chr1:190265079-190265080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531369013	chr1:190265086-190265087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76387064	chr1:190265112-190265113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568115330	chr1:190265152-190265153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533776452	chr1:190265163-190265164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201317296	chr1:190265167-190265168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553840372	chr1:190265169-190265170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570347630	chr1:190265176-190265177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200148039	chr1:190265197-190265198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs489912	chr1:190265206-190265207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376363977	chr1:190265208-190265209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75463969	chr1:190265213-190265214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540151208	chr1:190265221-190265222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556565866	chr1:190265228-190265229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540538419	chr1:190265244-190265245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576593637	chr1:190265256-190265257	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190249800-190267200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:190264200-190264800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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