Variant report

Variant	nsv519451
Chromosome Location	chr1:192880701-192888345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192880021..192882711-chr1:192883019..192884910,2	K562	blood:
2	chr1:192880021..192882711-chr1:192883019..192884910,2	K562	blood:
3	chr1:192878910..192881090-chr1:193133221..193136133,2	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7517778	chr1:192880701-192880702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532870968	chr1:192880711-192880712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572006554	chr1:192880735-192880736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542555001	chr1:192880738-192880739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376636391	chr1:192880739-192880740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537885651	chr1:192880742-192880743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554937714	chr1:192880780-192880781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187479168	chr1:192880781-192880782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371015716	chr1:192880789-192880790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534248543	chr1:192880896-192880897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190001515	chr1:192880903-192880904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7549165	chr1:192880916-192880917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs367994356	chr1:192880987-192880988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182583517	chr1:192880994-192880995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149525684	chr1:192881020-192881021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59218459	chr1:192881034-192881035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186496142	chr1:192881043-192881044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561679455	chr1:192881083-192881084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58637690	chr1:192881103-192881104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375040216	chr1:192881108-192881109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541086721	chr1:192881110-192881111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141272716	chr1:192881122-192881123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192301456	chr1:192881154-192881155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552787203	chr1:192881187-192881188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150741560	chr1:192881204-192881205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184641535	chr1:192881210-192881211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115028653	chr1:192881249-192881250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137978815	chr1:192881259-192881260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553880039	chr1:192881270-192881271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570598976	chr1:192881272-192881273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115591234	chr1:192881279-192881280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555938305	chr1:192881293-192881294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143551562	chr1:192881322-192881323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542068054	chr1:192881353-192881354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370023521	chr1:192881406-192881407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8179478	chr1:192881410-192881411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188709694	chr1:192881444-192881445	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147128589	chr1:192881456-192881457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541004594	chr1:192881457-192881458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8179479	chr1:192881500-192881501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549609516	chr1:192881531-192881532	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567888862	chr1:192881613-192881614	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564202739	chr1:192881674-192881675	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76761211	chr1:192881680-192881681	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546464413	chr1:192881684-192881685	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563023719	chr1:192881686-192881687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193279924	chr1:192881703-192881704	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184418689	chr1:192881779-192881780	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563859315	chr1:192881832-192881833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189126249	chr1:192881848-192881849	Weak transcription Enhancers	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
2	chr1:192877600-192881400	Weak transcription	HSMMtube	muscle
3	chr1:192877800-192884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:192877800-192884000	Weak transcription	Small Intestine	intestine
5	chr1:192878000-192881200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:192878000-192883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:192878400-192881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192878400-192883000	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:192878400-192883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:192878800-192883000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:192880800-192882000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:192881200-192881800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:192881400-192884400	Enhancers	HSMMtube	muscle
14	chr1:192881600-192881800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:192881800-192883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:192882000-192883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:192882000-192884400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:192882000-192884400	Enhancers	Stomach Mucosa	stomach
19	chr1:192882400-192882800	Enhancers	Liver	Liver
20	chr1:192882600-192884000	Enhancers	NHEK	skin
21	chr1:192882800-192883200	Weak transcription	Liver	Liver
22	chr1:192882800-192883600	Enhancers	Ovary	ovary
23	chr1:192882800-192883800	Enhancers	HMEC	breast
24	chr1:192883000-192883200	Enhancers	Lung	lung
25	chr1:192883000-192883400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:192883000-192883400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:192883000-192883400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:192883000-192883400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:192883000-192883400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:192883000-192883600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:192883000-192883600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:192883000-192883600	Enhancers	Fetal Stomach	stomach
33	chr1:192883000-192884200	Enhancers	Colon Smooth Muscle	Colon
34	chr1:192883000-192884200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:192883000-192884400	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:192883200-192884200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:192883200-192884400	Enhancers	Liver	Liver
38	chr1:192883200-192884400	Enhancers	A549	lung
39	chr1:192883400-192884000	Enhancers	Fetal Heart	heart
40	chr1:192883600-192884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:192883600-192884200	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:192883600-192887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:192884000-192884200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:192884000-192884200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:192884000-192884200	Enhancers	Small Intestine	intestine
46	chr1:192884000-192887800	Weak transcription	NHEK	skin
47	chr1:192884200-192887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:192884200-192887600	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:192884200-192888000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:192884200-192889200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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