Variant report

Variant	esv3370913
Chromosome Location	chr1:192941129-192942377
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	chr1:192935154..192937463-chr1:192938580..192941268,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148520034	chr1:192941137-192941138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117948214	chr1:192941158-192941159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532396839	chr1:192941169-192941170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532279078	chr1:192941174-192941175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552171826	chr1:192941276-192941277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547262656	chr1:192941305-192941306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1339589	chr1:192941446-192941447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34023480	chr1:192941472-192941473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371185819	chr1:192941520-192941521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532199339	chr1:192941566-192941567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550553281	chr1:192941567-192941568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199564356	chr1:192941570-192941571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149557770	chr1:192941611-192941612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376553953	chr1:192941661-192941662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537958825	chr1:192941676-192941677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375122517	chr1:192941689-192941690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1618583	chr1:192941819-192941820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370123744	chr1:192941820-192941821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180791174	chr1:192941836-192941837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533960251	chr1:192941880-192941881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142208268	chr1:192941910-192941911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571566874	chr1:192941975-192941976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78280973	chr1:192942008-192942009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200064673	chr1:192942030-192942031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74947596	chr1:192942034-192942035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185389457	chr1:192942047-192942048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148585708	chr1:192942054-192942055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11351578	chr1:192942055-192942056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541605611	chr1:192942063-192942064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7523585	chr1:192942073-192942074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1612628	chr1:192942084-192942085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147859757	chr1:192942096-192942097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141456165	chr1:192942118-192942119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532677800	chr1:192942159-192942160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1615218	chr1:192942217-192942218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1614412	chr1:192942291-192942292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192937800-192946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:192938000-192943000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:192938000-192943600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:192938000-192943800	Weak transcription	Pancreas	Pancrea
6	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
7	chr1:192938200-192942800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192938400-192942200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:192938400-192944800	Weak transcription	K562	blood
10	chr1:192938800-192943000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:192938800-192943800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:192939000-192942400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:192939200-192942200	Weak transcription	Osteobl	bone
14	chr1:192939200-192942600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:192939200-192946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:192940400-192942200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:192940600-192943200	Weak transcription	Small Intestine	intestine
18	chr1:192940600-192947600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:192940800-192941200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:192940800-192943800	Weak transcription	HSMMtube	muscle
21	chr1:192941000-192941200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:192941200-192941600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:192941200-192942200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:192942000-192942200	Enhancers	NHLF	lung
25	chr1:192942000-192942600	Enhancers	Colon Smooth Muscle	Colon
26	chr1:192942200-192943000	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:192942200-192943200	Weak transcription	NHLF	lung
28	chr1:192942200-192944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:192942200-192944200	Enhancers	NHDF-Ad	bronchial
30	chr1:192942200-192944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:192942200-192944400	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links