Variant report

Variant	esv3522817
Chromosome Location	chr1:166550878-166553576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166541145..166543068-chr1:166552578..166555523,2	K562	blood:
2	chr1:166552002..166554385-chr1:166564291..166566907,2	K562	blood:
3	chr1:166553441..166555941-chr1:166692722..166694602,2	K562	blood:
4	chr1:166538818..166541010-chr1:166552416..166555173,2	K562	blood:
5	chr1:166526359..166528969-chr1:166551076..166553291,2	K562	blood:
6	chr1:166552621..166555359-chr1:166806304..166809167,2	K562	blood:

Variant related genes	Relation type
ENSG00000143157	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570798858	chr1:166550883-166550884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182540122	chr1:166550934-166550935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559196421	chr1:166550954-166550955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186914115	chr1:166550982-166550983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544397646	chr1:166551039-166551040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555021160	chr1:166551121-166551122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189751996	chr1:166551127-166551128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540660236	chr1:166551162-166551163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560105100	chr1:166551174-166551175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150929173	chr1:166551176-166551177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370629199	chr1:166551207-166551208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375777082	chr1:166551226-166551227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545647640	chr1:166551229-166551230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539882268	chr1:166551258-166551259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142009658	chr1:166551262-166551263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1583978	chr1:166551300-166551301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs145773526	chr1:166551346-166551347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568181783	chr1:166551352-166551353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184079175	chr1:166551379-166551380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374148674	chr1:166551421-166551422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553044654	chr1:166551433-166551434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539348626	chr1:166551439-166551440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559261885	chr1:166551498-166551499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111694749	chr1:166551529-166551530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138702192	chr1:166551560-166551561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113698332	chr1:166551582-166551583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538463964	chr1:166551589-166551590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554851581	chr1:166551636-166551637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574917880	chr1:166551655-166551656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576201366	chr1:166551689-166551690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540326896	chr1:166551709-166551710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73017588	chr1:166551710-166551711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377692425	chr1:166551739-166551740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535668442	chr1:166551748-166551749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189013614	chr1:166551811-166551812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79058737	chr1:166551812-166551813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555574167	chr1:166551827-166551828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6682466	chr1:166551867-166551868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117146303	chr1:166551868-166551869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79641036	chr1:166551908-166551909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10644568	chr1:166551909-166551910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397719732	chr1:166551922-166551923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541369611	chr1:166551951-166551952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564097632	chr1:166551960-166551961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561727727	chr1:166552035-166552036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577572721	chr1:166552088-166552089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376273802	chr1:166552089-166552090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547473352	chr1:166552136-166552137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564084697	chr1:166552146-166552147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78685635	chr1:166552189-166552190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166550200-166552400	Weak transcription	K562	blood
2	chr1:166552400-166554600	Enhancers	K562	blood

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