Variant report

Variant	esv3388470
Chromosome Location	chr1:215523129-215525327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565029781	chr1:215523137-215523138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183511036	chr1:215523186-215523187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550615596	chr1:215523206-215523207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187471582	chr1:215523212-215523213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116296193	chr1:215523229-215523230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190806366	chr1:215523280-215523281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569639059	chr1:215523308-215523309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566546363	chr1:215523330-215523331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73090166	chr1:215523338-215523339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569950853	chr1:215523362-215523363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552375376	chr1:215523363-215523364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141820815	chr1:215523442-215523443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537812766	chr1:215523474-215523475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552008422	chr1:215523480-215523481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554551997	chr1:215523482-215523483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568366733	chr1:215523505-215523506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571871811	chr1:215523507-215523508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534441754	chr1:215523555-215523556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554082009	chr1:215523600-215523601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577348976	chr1:215523614-215523615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544713826	chr1:215523651-215523652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376303894	chr1:215523659-215523660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546402206	chr1:215523696-215523697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558344922	chr1:215523736-215523737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369205838	chr1:215523760-215523761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146844095	chr1:215523783-215523784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575315175	chr1:215523824-215523825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182496643	chr1:215523825-215523826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12569135	chr1:215523848-215523849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560872803	chr1:215523906-215523907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377229669	chr1:215523911-215523912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148022876	chr1:215523943-215523944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199544369	chr1:215523958-215523959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56040628	chr1:215523959-215523960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200468019	chr1:215523976-215523977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375722322	chr1:215523980-215523981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540525404	chr1:215523981-215523982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574207876	chr1:215523982-215523983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3074564	chr1:215523997-215523998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5780837	chr1:215523998-215523999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs931899	chr1:215524003-215524004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553060435	chr1:215524040-215524041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536729194	chr1:215524092-215524093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114591190	chr1:215524093-215524094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202244210	chr1:215524104-215524105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552364696	chr1:215524116-215524117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578067263	chr1:215524118-215524119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373367507	chr1:215524119-215524120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201240531	chr1:215524120-215524121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55816156	chr1:215524135-215524136	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
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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215519400-215530600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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