Variant report

Variant	esv3336593
Chromosome Location	chr1:211629729-211632027
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	chr1:211624302..211626627-chr1:211630248..211632637,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189232371	chr1:211629736-211629737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552120617	chr1:211629762-211629763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570535082	chr1:211629786-211629787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142449569	chr1:211629817-211629818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556275286	chr1:211629865-211629866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554481965	chr1:211629883-211629884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568633196	chr1:211629905-211629906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375263555	chr1:211629953-211629954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535625067	chr1:211629980-211629981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554352061	chr1:211630001-211630002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201974183	chr1:211630026-211630027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200383703	chr1:211630032-211630033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369537048	chr1:211630058-211630059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371798590	chr1:211630083-211630084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572614377	chr1:211630137-211630138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540146864	chr1:211630138-211630139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557763156	chr1:211630139-211630140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201185284	chr1:211630170-211630171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572759134	chr1:211630187-211630188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576140357	chr1:211630207-211630208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192555924	chr1:211630211-211630212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561812879	chr1:211630250-211630251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573684165	chr1:211630295-211630296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540829545	chr1:211630296-211630297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559516505	chr1:211630311-211630312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533052460	chr1:211630331-211630332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559142845	chr1:211630334-211630335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551293374	chr1:211630368-211630369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564126952	chr1:211630372-211630373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531638711	chr1:211630389-211630390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184779787	chr1:211630396-211630397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151317546	chr1:211630427-211630428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535959041	chr1:211630448-211630449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547646761	chr1:211630487-211630488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188856856	chr1:211630513-211630514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540121692	chr1:211630516-211630517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58164259	chr1:211630525-211630526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576105232	chr1:211630539-211630540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1084986	chr1:211630540-211630541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555352743	chr1:211630600-211630601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573620703	chr1:211630628-211630629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541145645	chr1:211630631-211630632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559262885	chr1:211630650-211630651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577806024	chr1:211630684-211630685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61849010	chr1:211630685-211630686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573826076	chr1:211630726-211630727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1084987	chr1:211630754-211630755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs369432050	chr1:211630783-211630784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562102444	chr1:211630826-211630827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373358881	chr1:211630847-211630848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211627800-211633200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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