Variant report

Variant	nsv998153
Chromosome Location	chr2:53005501-53033534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 528 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2603393	chr2:53005501-53005502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369990091	chr2:53005512-53005513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529114937	chr2:53005547-53005548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189345078	chr2:53005551-53005552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529848797	chr2:53005566-53005567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568910705	chr2:53005579-53005580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371776334	chr2:53005623-53005624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1454388	chr2:53005638-53005639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180787863	chr2:53005679-53005680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186225840	chr2:53005716-53005717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534310658	chr2:53005730-53005731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554174660	chr2:53005740-53005741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191004866	chr2:53005748-53005749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2599286	chr2:53005758-53005759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73931462	chr2:53005790-53005791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576702453	chr2:53005825-53005826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545179158	chr2:53005826-53005827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181927936	chr2:53005861-53005862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532832432	chr2:53005910-53005911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62127030	chr2:53005913-53005914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140577531	chr2:53005931-53005932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149690332	chr2:53005954-53005955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548589050	chr2:53006004-53006005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185930369	chr2:53006041-53006042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562787167	chr2:53006072-53006073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531536668	chr2:53006073-53006074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1451464	chr2:53006126-53006127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs1451465	chr2:53006142-53006143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1454387	chr2:53006197-53006198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547913614	chr2:53006234-53006235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567699568	chr2:53006250-53006251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536639669	chr2:53006301-53006302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1451466	chr2:53006336-53006337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576650226	chr2:53006374-53006375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369772425	chr2:53006396-53006397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538966256	chr2:53006397-53006398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558688009	chr2:53006400-53006401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139135328	chr2:53021825-53021826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189781796	chr2:53021829-53021830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543480240	chr2:53021837-53021838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75051235	chr2:53021846-53021847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572615265	chr2:53021909-53021910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551145063	chr2:53021921-53021922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571431333	chr2:53021925-53021926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546380684	chr2:53021943-53021944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559993597	chr2:53021965-53021966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533707766	chr2:53021992-53021993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371168552	chr2:53022057-53022058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73931478	chr2:53022059-53022060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115015794	chr2:53022070-53022071	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53004200-53006400	Enhancers	Fetal Intestine Large	intestine
2	chr2:53021800-53022200	Enhancers	Adipose Nuclei	Adipose
3	chr2:53024200-53025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53025200-53029200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:53027800-53049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:53029200-53029400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
7	chr2:53029200-53029800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:53029800-53033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:53031200-53031800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:53031400-53031800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:53033200-53034400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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