Variant report

Variant	esv3358111
Chromosome Location	chr1:193308994-193309943
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	chr1:193296415..193298204-chr1:193307426..193309237,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573119718	chr1:193309000-193309001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11381887	chr1:193309010-193309011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376740956	chr1:193309011-193309012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539564066	chr1:193309028-193309029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6702762	chr1:193309045-193309046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545987154	chr1:193309051-193309052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535133926	chr1:193309071-193309072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564382059	chr1:193309138-193309139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376537498	chr1:193309263-193309264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148332900	chr1:193309264-193309265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540386370	chr1:193309308-193309309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541746669	chr1:193309365-193309366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560316061	chr1:193309409-193309410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576898918	chr1:193309421-193309422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545905833	chr1:193309438-193309439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369498917	chr1:193309444-193309445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531707483	chr1:193309457-193309458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548338681	chr1:193309468-193309469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186271843	chr1:193309582-193309583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527589468	chr1:193309587-193309588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141414241	chr1:193309599-193309600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546869232	chr1:193309610-193309611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4657855	chr1:193309614-193309615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549826320	chr1:193309625-193309626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530088488	chr1:193309699-193309700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569698072	chr1:193309716-193309717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535423111	chr1:193309734-193309735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548420967	chr1:193309752-193309753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564762776	chr1:193309766-193309767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555076287	chr1:193309822-193309823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569785262	chr1:193309839-193309840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9970143	chr1:193309860-193309861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs9887786	chr1:193309871-193309872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138724292	chr1:193309919-193309920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113139464	chr1:193309924-193309925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74481002	chr1:193309934-193309935	Weak transcription Enhancers	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
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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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
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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193306800-193309000	Enhancers	Osteobl	bone
3	chr1:193307600-193310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:193308000-193310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:193308000-193310400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:193308000-193317400	Weak transcription	HSMM	muscle
7	chr1:193308200-193310600	Weak transcription	NHDF-Ad	bronchial
8	chr1:193308400-193309000	Enhancers	HUVEC	blood vessel
9	chr1:193308400-193309800	Enhancers	Fetal Intestine Large	intestine
10	chr1:193308400-193311600	Enhancers	Fetal Intestine Small	intestine
11	chr1:193309400-193309600	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:193309600-193310600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:193309800-193310200	Weak transcription	Fetal Intestine Large	intestine

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