Variant report

Variant	esv3341914
Chromosome Location	chr1:174104504-174106652
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	chr1:174105990..174108806-chr1:174127431..174129589,2	K562	blood:
2	chr1:174105990..174108880-chr1:174128089..174130307,2	K562	blood:

Variant related genes	Relation type
ENSG00000152061	chromatin interactions
ENSG00000227373	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72711457	chr1:174104523-174104524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190239767	chr1:174104541-174104542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549087999	chr1:174104583-174104584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569269971	chr1:174104598-174104599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4652191	chr1:174104611-174104612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551803371	chr1:174104700-174104701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2901785	chr1:174104743-174104744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs534356150	chr1:174104808-174104809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554428244	chr1:174104809-174104810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75165126	chr1:174104835-174104836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574364631	chr1:174104844-174104845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182573527	chr1:174104851-174104852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115120856	chr1:174105022-174105023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575243027	chr1:174105061-174105062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543868486	chr1:174105096-174105097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79639267	chr1:174105290-174105291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531333816	chr1:174105301-174105302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551471337	chr1:174105302-174105303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1207174	chr1:174105312-174105313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186553205	chr1:174105313-174105314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373670843	chr1:174105366-174105367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367843090	chr1:174105367-174105368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1207177	chr1:174105398-174105399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201150684	chr1:174105408-174105409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199580139	chr1:174105410-174105411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370856584	chr1:174105411-174105412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1308939	chr1:174105468-174105469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571070644	chr1:174105478-174105479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564168317	chr1:174105488-174105489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191287703	chr1:174105531-174105532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1207175	chr1:174105534-174105535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76950976	chr1:174105542-174105543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398053542	chr1:174105554-174105555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1207176	chr1:174105560-174105561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553705092	chr1:174105628-174105629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375159326	chr1:174105629-174105630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559945692	chr1:174105630-174105631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79379996	chr1:174105702-174105703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549304879	chr1:174105729-174105730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76882767	chr1:174105755-174105756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs531687514	chr1:174105807-174105808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551496892	chr1:174105939-174105940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571741206	chr1:174105949-174105950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150963436	chr1:174106007-174106008	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374036947	chr1:174106025-174106026	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567898232	chr1:174106065-174106066	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536542508	chr1:174106074-174106075	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189254708	chr1:174106141-174106142	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573364316	chr1:174106154-174106155	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556770763	chr1:174106190-174106191	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174101800-174104800	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:174104000-174106400	Enhancers	GM12878-XiMat	blood
3	chr1:174104400-174104800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:174104400-174105000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr1:174104400-174105200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:174104800-174105800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:174105800-174106400	Enhancers	Primary B cells from peripheral blood	blood

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