Variant report

Variant	esv3361808
Chromosome Location	chr1:193254259-193254836
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193249727..193252720-chr1:193254331..193256682,2	K562	blood:
2	chr1:193253060..193255508-chr1:193274779..193276360,2	MCF-7	breast:
3	chr1:193251220..193253258-chr1:193254236..193256682,2	K562	blood:
4	chr1:193254488..193256138-chr1:193258894..193261172,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141747514	chr1:193254276-193254277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573318476	chr1:193254322-193254323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553009827	chr1:193254328-193254329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148716305	chr1:193254347-193254348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183285503	chr1:193254450-193254451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558925808	chr1:193254455-193254456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371419889	chr1:193254553-193254554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544399639	chr1:193254555-193254556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560782121	chr1:193254596-193254597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574466935	chr1:193254630-193254631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187928043	chr1:193254634-193254635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150527740	chr1:193254659-193254660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532016743	chr1:193254681-193254682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193292414	chr1:193254701-193254702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565596040	chr1:193254711-193254712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2244478	chr1:193254737-193254738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551161109	chr1:193254743-193254744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567800404	chr1:193254746-193254747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536737191	chr1:193254751-193254752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547144360	chr1:193254752-193254753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566855001	chr1:193254760-193254761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72740270	chr1:193254766-193254767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369748627	chr1:193254799-193254800	Weak transcription Enhancers	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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:193229000-193254800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:193239800-193254600	Weak transcription	HSMM	muscle
4	chr1:193243800-193254400	Weak transcription	HSMMtube	muscle
5	chr1:193243800-193267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:193250200-193257800	Weak transcription	NHDF-Ad	bronchial
7	chr1:193252600-193254600	Weak transcription	NHLF	lung
8	chr1:193252600-193254800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:193252600-193256400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:193252600-193258000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:193252800-193254800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:193252800-193258000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:193254400-193254600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:193254400-193254600	Enhancers	HSMMtube	muscle
15	chr1:193254600-193255000	Enhancers	NHLF	lung
16	chr1:193254600-193255200	Enhancers	HSMM	muscle
17	chr1:193254800-193255200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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