Variant report

Variant	nsv874142
Chromosome Location	chr2:53482626-53609363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:53577427..53579726-chr2:53588539..53591253,2	K562	blood:
2	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
3	chr2:53502164..53503669-chr2:53509453..53511417,2	K562	blood:
4	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:
5	chr2:53577427..53579726-chr2:53588539..53591253,2	K562	blood:
6	chr2:53529512..53531375-chr2:53546026..53547924,2	K562	blood:

Extended variants
information (count: 3918 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:3918 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191104885	chr2:53485810-53485811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374593695	chr2:53485813-53485814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141996573	chr2:53485821-53485822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184639372	chr2:53485826-53485827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555253197	chr2:53485832-53485833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567723850	chr2:53485835-53485836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190369110	chr2:53485925-53485926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556632316	chr2:53485950-53485951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs195588	chr2:53485953-53485954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539340762	chr2:53485956-53485957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559253522	chr2:53486025-53486026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76648902	chr2:53486035-53486036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182496082	chr2:53486046-53486047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554843004	chr2:53486052-53486053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573715101	chr2:53486074-53486075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139872231	chr2:53486080-53486081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562192937	chr2:53486092-53486093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531162677	chr2:53486094-53486095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs195589	chr2:53486117-53486118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs79032950	chr2:53486123-53486124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527518591	chr2:53486155-53486156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547601183	chr2:53486172-53486173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186686343	chr2:53486195-53486196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs195590	chr2:53486196-53486197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550249033	chr2:53486200-53486201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374723726	chr2:53486201-53486202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs195591	chr2:53486202-53486203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13401835	chr2:53486206-53486207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567718616	chr2:53486227-53486228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552925725	chr2:53486270-53486271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11886209	chr2:53486278-53486279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536849214	chr2:53486299-53486300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188924534	chr2:53486300-53486301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555198676	chr2:53486301-53486302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574931305	chr2:53486307-53486308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58032848	chr2:53486329-53486330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111919350	chr2:53486342-53486343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568595727	chr2:53486361-53486362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148409772	chr2:53486365-53486366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372378124	chr2:53486371-53486372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116588603	chr2:53486380-53486381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572342896	chr2:53486391-53486392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540962330	chr2:53486393-53486394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561137784	chr2:53486396-53486397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112782703	chr2:53486401-53486402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185510079	chr2:53486402-53486403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13388576	chr2:53486406-53486407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563743714	chr2:53486415-53486416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577517179	chr2:53486424-53486425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532628789	chr2:53486429-53486430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53485800-53493000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:53487000-53487200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:53490800-53493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:53492000-53495200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:53492400-53493800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:53492800-53493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:53492800-53493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:53492800-53495400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:53493000-53493200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:53493200-53493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:53493200-53494000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:53493200-53495000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:53494600-53495400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:53494800-53495600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:53495000-53495800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:53495200-53496200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:53495600-53496200	Enhancers	HMEC	breast
18	chr2:53495600-53496200	Enhancers	NHEK	skin
19	chr2:53496200-53511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:53501600-53502000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:53501600-53502400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:53501600-53502400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:53501800-53502200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:53501800-53502400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:53501800-53502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:53502000-53502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:53502000-53502400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr2:53502000-53502400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:53502000-53502400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:53502200-53502400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:53502200-53502600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:53502200-53503000	Enhancers	Dnd41	blood
33	chr2:53502400-53516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:53503200-53504200	Enhancers	Fetal Heart	heart
35	chr2:53510400-53511800	Enhancers	Hela-S3	cervix
36	chr2:53510600-53511800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:53511400-53511800	Enhancers	Fetal Heart	heart
38	chr2:53511400-53511800	Enhancers	HMEC	breast
39	chr2:53511600-53512000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:53511600-53512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:53511800-53516400	Weak transcription	Hela-S3	cervix
42	chr2:53511800-53516400	Weak transcription	HMEC	breast
43	chr2:53512000-53519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:53515600-53517200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:53515800-53516400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:53515800-53516800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:53515800-53517400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:53516000-53517400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:53516000-53517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:53516400-53516800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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