Variant report

Variant	esv3453845
Chromosome Location	chr1:216185079-216186027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557952537	chr1:216185098-216185099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149597533	chr1:216185118-216185119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112188236	chr1:216185119-216185120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188017842	chr1:216185139-216185140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202159315	chr1:216185141-216185142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372177780	chr1:216185143-216185144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376528568	chr1:216185149-216185150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557481446	chr1:216185169-216185170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4020000	chr1:216185177-216185178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143574944	chr1:216185225-216185226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553058291	chr1:216185244-216185245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573503562	chr1:216185273-216185274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111442118	chr1:216185298-216185299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2365633	chr1:216185304-216185305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377258819	chr1:216185312-216185313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76179161	chr1:216185317-216185318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370528134	chr1:216185318-216185319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374983428	chr1:216185322-216185323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36126185	chr1:216185339-216185340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193091115	chr1:216185365-216185366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531002299	chr1:216185430-216185431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202185666	chr1:216185454-216185455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543162390	chr1:216185471-216185472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563020622	chr1:216185473-216185474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2365634	chr1:216185518-216185519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548977391	chr1:216185592-216185593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565509453	chr1:216185616-216185617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185015906	chr1:216185644-216185645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571572405	chr1:216185674-216185675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551345246	chr1:216185756-216185757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571508310	chr1:216185786-216185787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537240156	chr1:216185797-216185798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12409790	chr1:216185808-216185809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567777933	chr1:216185833-216185834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140822052	chr1:216185885-216185886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553337104	chr1:216185901-216185902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145898063	chr1:216185904-216185905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4509554	chr1:216185914-216185915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141170443	chr1:216185920-216185921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189004771	chr1:216185940-216185941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544381147	chr1:216185954-216185955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561108612	chr1:216185962-216185963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573700125	chr1:216185979-216185980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542308980	chr1:216185985-216185986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559309306	chr1:216185990-216185991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4655293	chr1:216185994-216185995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12738949	chr1:216186013-216186014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216183000-216187400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:216184200-216187200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:216185400-216185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:216185600-216187200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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