Variant report

Variant	nsv581989
Chromosome Location	chr2:53549197-53559815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6711663	chr2:53549197-53549198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4672334	chr2:53549248-53549249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573312059	chr2:53549279-53549280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543659055	chr2:53549330-53549331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369418014	chr2:53549337-53549338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563379152	chr2:53549341-53549342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576966865	chr2:53549364-53549365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546350040	chr2:53549369-53549370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180854456	chr2:53549381-53549382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539263404	chr2:53549398-53549399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528562872	chr2:53549453-53549454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113602510	chr2:53549497-53549498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373353351	chr2:53549501-53549502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12473040	chr2:53549521-53549522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531120306	chr2:53549531-53549532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555876022	chr2:53549557-53549558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78986463	chr2:53549577-53549578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77433810	chr2:53549628-53549629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375869401	chr2:53549629-53549630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377586630	chr2:53549630-53549631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539629974	chr2:53549640-53549641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546755734	chr2:53549646-53549647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368849690	chr2:53549653-53549654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367963746	chr2:53549654-53549655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565457154	chr2:53549665-53549666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544925972	chr2:53549704-53549705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534366869	chr2:53549746-53549747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186101339	chr2:53549762-53549763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79264174	chr2:53549783-53549784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115001576	chr2:53549790-53549791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544568957	chr2:53549795-53549796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564789549	chr2:53549829-53549830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140554593	chr2:53549867-53549868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546036377	chr2:53549871-53549872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72804770	chr2:53549878-53549879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62138646	chr2:53549880-53549881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189488338	chr2:53549893-53549894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537097089	chr2:53549905-53549906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150102610	chr2:53549935-53549936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181551328	chr2:53549984-53549985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540457532	chr2:53550031-53550032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560787742	chr2:53550053-53550054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370927914	chr2:53550073-53550074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533416318	chr2:53550082-53550083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546790457	chr2:53550095-53550096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376693496	chr2:53550097-53550098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200720735	chr2:53550098-53550099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566681312	chr2:53550119-53550120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35441802	chr2:53550121-53550122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528210764	chr2:53550156-53550157	Weak transcription	n/a	n/a	Overlapped CNVs	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53542600-53550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links