Variant report

Variant	nsv581985
Chromosome Location	chr2:53516993-53536813
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	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Extended variants
information (count: 201 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12473577	chr2:53516993-53516994	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs575141205	chr2:53517007-53517008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141131131	chr2:53517017-53517018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545633601	chr2:53517041-53517042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370928246	chr2:53517054-53517055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552734616	chr2:53517063-53517064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561507972	chr2:53517064-53517065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573027812	chr2:53517079-53517080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183141356	chr2:53517094-53517095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79695342	chr2:53517136-53517137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544429031	chr2:53517171-53517172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562008048	chr2:53517181-53517182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530945268	chr2:53517196-53517197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544233856	chr2:53517256-53517257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564817300	chr2:53517264-53517265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533660442	chr2:53517276-53517277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111805317	chr2:53517280-53517281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567050650	chr2:53517295-53517296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529439461	chr2:53517322-53517323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548274782	chr2:53517340-53517341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188075540	chr2:53517394-53517395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537094518	chr2:53517404-53517405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556526184	chr2:53517418-53517419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570447582	chr2:53517420-53517421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377022204	chr2:53517432-53517433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17044426	chr2:53517442-53517443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150714215	chr2:53517452-53517453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541620328	chr2:53517492-53517493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555835359	chr2:53517506-53517507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575647442	chr2:53517559-53517560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139053863	chr2:53517594-53517595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564461202	chr2:53517624-53517625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533697734	chr2:53517673-53517674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564585096	chr2:53517754-53517755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560735443	chr2:53517773-53517774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533184613	chr2:53517822-53517823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192545526	chr2:53517839-53517840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568185849	chr2:53517855-53517856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530505961	chr2:53517893-53517894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184504983	chr2:53517897-53517898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149956275	chr2:53517928-53517929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78336442	chr2:53517933-53517934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117425169	chr2:53517944-53517945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79611098	chr2:53517956-53517957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535687885	chr2:53517987-53517988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78772697	chr2:53517988-53517989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146041916	chr2:53517989-53517990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187870720	chr2:53518000-53518001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371629197	chr2:53518001-53518002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58252800	chr2:53518031-53518032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53512000-53519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:53515600-53517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:53515800-53517400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:53516000-53517400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:53516000-53517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:53516400-53517000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:53516400-53517000	Enhancers	Hela-S3	cervix
8	chr2:53516400-53517000	Enhancers	NHEK	skin
9	chr2:53516400-53517600	Enhancers	HMEC	breast
10	chr2:53516600-53517000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:53516600-53517000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:53517000-53517400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr2:53519800-53520200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:53535400-53536200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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