Variant report

Variant	esv3334316
Chromosome Location	chr1:150690728-150692726
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	chr1:150688285..150691127-chr1:150698311..150700209,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587675386	chr1:150690812-150690813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75382573	chr1:150690819-150690820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373814216	chr1:150690821-150690822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34919135	chr1:150690840-150690841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79019274	chr1:150690857-150690858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587727095	chr1:150690883-150690884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182814747	chr1:150690890-150690891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187944600	chr1:150690929-150690930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72702577	chr1:150690948-150690949	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs587662978	chr1:150690990-150690991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147771156	chr1:150690995-150690996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587616470	chr1:150690999-150691000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192457082	chr1:150691069-150691070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587759672	chr1:150691072-150691073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368868762	chr1:150691111-150691112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587630139	chr1:150691121-150691122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs951281	chr1:150691122-150691123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs183094180	chr1:150691125-150691126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587637268	chr1:150691159-150691160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374933399	chr1:150691188-150691189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1415147	chr1:150691238-150691239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs72702580	chr1:150691285-150691286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs113233823	chr1:150691316-150691317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587656205	chr1:150691394-150691395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187613164	chr1:150691452-150691453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375133575	chr1:150691454-150691455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369584246	chr1:150691455-150691456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12756612	chr1:150691465-150691466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201344974	chr1:150691764-150691765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202073912	chr1:150691765-150691766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200422462	chr1:150691766-150691767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201335673	chr1:150691769-150691770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192629375	chr1:150691815-150691816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370995258	chr1:150691851-150691852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377190271	chr1:150691854-150691855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369407284	chr1:150691857-150691858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370841521	chr1:150691911-150691912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184846586	chr1:150691954-150691955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374474869	chr1:150691963-150691964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368878650	chr1:150691986-150691987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374813290	chr1:150691994-150691995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375045460	chr1:150692008-150692009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113535038	chr1:150692060-150692061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142968626	chr1:150692105-150692106	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs587606251	chr1:150692109-150692110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587655807	chr1:150692116-150692117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112647420	chr1:150692146-150692147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587620132	chr1:150692164-150692165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587679390	chr1:150692205-150692206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189789863	chr1:150692248-150692249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150670600-150702600	Weak transcription	Hela-S3	cervix
2	chr1:150679200-150698600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:150681600-150702600	Weak transcription	A549	lung
4	chr1:150690600-150690800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:150690800-150691200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:150690800-150702400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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