Variant report

Variant	nsv1011670
Chromosome Location	chr2:53013320-53058194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53048846..53049807-chr2:53183875..53184416,2	MCF-7	breast:
2	chr2:53037286..53038157-chr2:53203093..53203814,3	MCF-7	breast:
3	chr2:53037360..53037874-chr2:53428995..53429598,2	MCF-7	breast:
4	chr2:53048584..53050700-chr2:53053856..53055982,2	K562	blood:
5	chr2:53048584..53050700-chr2:53053856..53055982,2	K562	blood:

Extended variants
information (count: 1615 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1615 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139135328	chr2:53021825-53021826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189781796	chr2:53021829-53021830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543480240	chr2:53021837-53021838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75051235	chr2:53021846-53021847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572615265	chr2:53021909-53021910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551145063	chr2:53021921-53021922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571431333	chr2:53021925-53021926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546380684	chr2:53021943-53021944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559993597	chr2:53021965-53021966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533707766	chr2:53021992-53021993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371168552	chr2:53022057-53022058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73931478	chr2:53022059-53022060	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115015794	chr2:53022070-53022071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34183638	chr2:53022100-53022101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529667782	chr2:53022109-53022110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114938566	chr2:53022149-53022150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569896214	chr2:53022150-53022151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374998319	chr2:53022158-53022159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182284617	chr2:53022161-53022162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11125445	chr2:53022163-53022164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs565535428	chr2:53022164-53022165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187696586	chr2:53022193-53022194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370720341	chr2:53024202-53024203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113085471	chr2:53024226-53024227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs785294	chr2:53024241-53024242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367867831	chr2:53024264-53024265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560356251	chr2:53024272-53024273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529397160	chr2:53024301-53024302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185372360	chr2:53024317-53024318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562897423	chr2:53024344-53024345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137915156	chr2:53024347-53024348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10209194	chr2:53024383-53024384	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs571632877	chr2:53024415-53024416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116528917	chr2:53024443-53024444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547603712	chr2:53024478-53024479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566407183	chr2:53024527-53024528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563779566	chr2:53024528-53024529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532697151	chr2:53024540-53024541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535542044	chr2:53024545-53024546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546207073	chr2:53024572-53024573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555219453	chr2:53024576-53024577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559742862	chr2:53024581-53024582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568826477	chr2:53024595-53024596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142461203	chr2:53024645-53024646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528497611	chr2:53024668-53024669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9309233	chr2:53024686-53024687	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs578015292	chr2:53024689-53024690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540388236	chr2:53024703-53024704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553934788	chr2:53024741-53024742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368385681	chr2:53024808-53024809	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53021800-53022200	Enhancers	Adipose Nuclei	Adipose
2	chr2:53024200-53025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:53025200-53029200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:53027800-53049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:53029200-53029400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
6	chr2:53029200-53029800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:53029800-53033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:53031200-53031800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:53031400-53031800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:53033200-53034400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:53037600-53037800	Weak transcription	Left Ventricle	heart
12	chr2:53037800-53038000	Enhancers	Left Ventricle	heart
13	chr2:53037800-53038200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:53037800-53038200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:53037800-53038200	Enhancers	Pancreas	Pancrea
16	chr2:53038200-53044600	Weak transcription	Pancreas	Pancrea
17	chr2:53046400-53046800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:53046800-53050600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:53050600-53051400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:53051400-53058200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:53057000-53057400	Enhancers	Pancreas	Pancrea
22	chr2:53057400-53059600	Weak transcription	Pancreas	Pancrea

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