Variant report

Variant	esv3495502
Chromosome Location	chr1:192887486-192889990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569199667	chr1:192887490-192887491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545406647	chr1:192887544-192887545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191065453	chr1:192887606-192887607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74701253	chr1:192887657-192887658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371797873	chr1:192887664-192887665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533775934	chr1:192887671-192887672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553546115	chr1:192887746-192887747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12738652	chr1:192887752-192887753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6677203	chr1:192887797-192887798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577437738	chr1:192887800-192887801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539686122	chr1:192887855-192887856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183318962	chr1:192887876-192887877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540037336	chr1:192887912-192887913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141166103	chr1:192887913-192887914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541446214	chr1:192887971-192887972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12403507	chr1:192887993-192887994	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572169720	chr1:192887998-192887999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542796045	chr1:192888021-192888022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150900851	chr1:192888032-192888033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560627654	chr1:192888034-192888035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560545968	chr1:192888038-192888039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185785466	chr1:192888048-192888049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563018191	chr1:192888056-192888057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561442950	chr1:192888090-192888091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531763077	chr1:192888128-192888129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6680086	chr1:192888180-192888181	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568260084	chr1:192888213-192888214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12402616	chr1:192888214-192888215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191031153	chr1:192888220-192888221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139395065	chr1:192888286-192888287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539237318	chr1:192888293-192888294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565203448	chr1:192888318-192888319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60166282	chr1:192888344-192888345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6671680	chr1:192888345-192888346	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150062192	chr1:192888379-192888380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370106602	chr1:192888431-192888432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12743558	chr1:192888459-192888460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555355451	chr1:192888460-192888461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12722757	chr1:192888495-192888496	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77688349	chr1:192888502-192888503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370317695	chr1:192888510-192888511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529786135	chr1:192888532-192888533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78711314	chr1:192888554-192888555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146109590	chr1:192888556-192888557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56754951	chr1:192888582-192888583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140150573	chr1:192888611-192888612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143689289	chr1:192888629-192888630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548565451	chr1:192888635-192888636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561714647	chr1:192888695-192888696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527803830	chr1:192888698-192888699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
2	chr1:192883600-192887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:192884000-192887800	Weak transcription	NHEK	skin
4	chr1:192884200-192887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:192884200-192887600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:192884200-192888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:192884200-192889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:192884200-192889600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:192887400-192890200	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:192887600-192887800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:192887600-192888200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:192887600-192888600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:192887800-192888200	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:192887800-192888400	Enhancers	NHEK	skin
15	chr1:192888000-192888400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:192888200-192888800	Enhancers	Colon Smooth Muscle	Colon
17	chr1:192888800-192889000	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr1:192888800-192889800	Enhancers	Fetal Stomach	stomach
19	chr1:192889000-192889200	Enhancers	Colon Smooth Muscle	Colon
20	chr1:192889000-192889800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:192889000-192889800	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:192889200-192889400	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr1:192889200-192889400	ZNF genes & repeats	Pancreas	Pancrea
24	chr1:192889200-192889400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:192889400-192890200	Enhancers	Colon Smooth Muscle	Colon
26	chr1:192889400-192890400	Weak transcription	Pancreas	Pancrea
27	chr1:192889600-192890000	Enhancers	Duodenum Smooth Muscle	Duodenum

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