Variant report

Variant	esv3367686
Chromosome Location	chr1:192850029-192852177
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr1:192850762-192851015	K562	blood:	n/a	n/a

Variant related genes	Relation type
RN7SKP126	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143855978	chr1:192850043-192850044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs540975760	chr1:192850045-192850046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558906025	chr1:192850121-192850122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575643063	chr1:192850160-192850161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184198789	chr1:192850168-192850169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138527963	chr1:192850188-192850189	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574312154	chr1:192850227-192850228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2252065	chr1:192850240-192850241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559964620	chr1:192850302-192850303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561648794	chr1:192850305-192850306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528699327	chr1:192850323-192850324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551592562	chr1:192850333-192850334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565113683	chr1:192850376-192850377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188218181	chr1:192850387-192850388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs60641679	chr1:192850421-192850422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs550423556	chr1:192850442-192850443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570743827	chr1:192850458-192850459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567663296	chr1:192850472-192850473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536208965	chr1:192850493-192850494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547095039	chr1:192850499-192850500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540122684	chr1:192850515-192850516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181755004	chr1:192850568-192850569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539108223	chr1:192850573-192850574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10801159	chr1:192850605-192850606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575507871	chr1:192850616-192850617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186272014	chr1:192850727-192850728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549548464	chr1:192850741-192850742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555644882	chr1:192850765-192850766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573829806	chr1:192850795-192850796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554857884	chr1:192850852-192850853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374785838	chr1:192851013-192851014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369777045	chr1:192851014-192851015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58577111	chr1:192851015-192851016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138768131	chr1:192851020-192851021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397830435	chr1:192851021-192851022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574395113	chr1:192851058-192851059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28757765	chr1:192851066-192851067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28373392	chr1:192851094-192851095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28567574	chr1:192851100-192851101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201812992	chr1:192851120-192851121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2487286	chr1:192851123-192851124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560077689	chr1:192851124-192851125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35274338	chr1:192851146-192851147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10921281	chr1:192851166-192851167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545488424	chr1:192851185-192851186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367879465	chr1:192851221-192851222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544865341	chr1:192851222-192851223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562135735	chr1:192851261-192851262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189515151	chr1:192851387-192851388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181700740	chr1:192851439-192851440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192841800-192850200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:192843800-192861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:192847800-192850400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:192848000-192852400	Weak transcription	Pancreas	Pancrea
5	chr1:192848400-192853600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:192849400-192850200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:192850200-192854600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:192850400-192854800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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