Variant report

Variant	esv3321927
Chromosome Location	chr1:175069029-175073527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175069058..175070740-chr1:175082430..175084040,2	K562	blood:
2	chr1:174738634..174740164-chr1:175067816..175070617,2	K562	blood:
3	chr1:174768698..174770635-chr1:175067635..175070308,2	K562	blood:

Variant related genes	Relation type
ENSG00000152061	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543541598	chr1:175069037-175069038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373334792	chr1:175069065-175069066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532378014	chr1:175069066-175069067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112143459	chr1:175069074-175069075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565996003	chr1:175069075-175069076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs75808035	chr1:175069100-175069101	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186304648	chr1:175069122-175069123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79551738	chr1:175069139-175069140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536389797	chr1:175069140-175069141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555973897	chr1:175069162-175069163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143762333	chr1:175069188-175069189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201129324	chr1:175069205-175069206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538229463	chr1:175069220-175069221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558375157	chr1:175069251-175069252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558830232	chr1:175069308-175069309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189574314	chr1:175069328-175069329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61827441	chr1:175069370-175069371	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377599961	chr1:175069415-175069416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554843815	chr1:175069421-175069422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73044983	chr1:175069423-175069424	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543924475	chr1:175069436-175069437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537264559	chr1:175069493-175069494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78093835	chr1:175069508-175069509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373740737	chr1:175069528-175069529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545835512	chr1:175069550-175069551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559621383	chr1:175069564-175069565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180763261	chr1:175069567-175069568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548465937	chr1:175069569-175069570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568353006	chr1:175069629-175069630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574260915	chr1:175069633-175069634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549871079	chr1:175069729-175069730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569617589	chr1:175069774-175069775	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186488164	chr1:175069779-175069780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76904251	chr1:175069797-175069798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560076374	chr1:175069805-175069806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79123724	chr1:175069808-175069809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs66530056	chr1:175069837-175069838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527239280	chr1:175069838-175069839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs79981764	chr1:175069845-175069846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs398053547	chr1:175069846-175069847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573202873	chr1:175069865-175069866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs574593469	chr1:175069887-175069888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11583729	chr1:175069893-175069894	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs571482192	chr1:175069913-175069914	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565243193	chr1:175069920-175069921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577218622	chr1:175069952-175069953	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116819609	chr1:175069985-175069986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559364041	chr1:175069988-175069989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540264942	chr1:175070008-175070009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11805690	chr1:175070014-175070015	Weak transcription	Chromatin interactive region	1 gene(s)	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	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
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
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
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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175062400-175071400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:175071400-175071600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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