Variant report

Variant	nsv517246
Chromosome Location	chr12:64721220-64724531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64721969..64724483-chr12:64728009..64729540,2	K562	blood:
2	chr12:64719649..64721355-chr12:64724218..64726490,3	K562	blood:
3	chr12:64719649..64721244-chr12:64724934..64726490,2	K562	blood:
4	chr12:64719649..64721355-chr12:64724218..64726490,3	K562	blood:
5	chr12:64715656..64718210-chr12:64724024..64727796,3	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12303938	chr12:64721220-64721221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7969899	chr12:64721321-64721322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs76817125	chr12:64721361-64721362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565600653	chr12:64721444-64721445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534513625	chr12:64721458-64721459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540749584	chr12:64721462-64721463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150427531	chr12:64721463-64721464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554316743	chr12:64721518-64721519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193243118	chr12:64721632-64721633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559572957	chr12:64721643-64721644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577373027	chr12:64721692-64721693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185396737	chr12:64721756-64721757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528311096	chr12:64721764-64721765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202126953	chr12:64721778-64721779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190652972	chr12:64721813-64721814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373797086	chr12:64721896-64721897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181515423	chr12:64721937-64721938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76837299	chr12:64721974-64721975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7487980	chr12:64721991-64721992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs184595951	chr12:64721992-64721993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541657103	chr12:64722033-64722034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188615589	chr12:64722068-64722069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561354074	chr12:64722112-64722113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11611137	chr12:64722130-64722131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181375743	chr12:64722181-64722182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549659695	chr12:64722196-64722197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561516862	chr12:64722227-64722228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563390114	chr12:64722257-64722258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149186390	chr12:64722281-64722282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3922750	chr12:64722319-64722320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs7973979	chr12:64722392-64722393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528336648	chr12:64722438-64722439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548449294	chr12:64722439-64722440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3923177	chr12:64722478-64722479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79558283	chr12:64722481-64722482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59688148	chr12:64722486-64722487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369096445	chr12:64722487-64722488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375668957	chr12:64722488-64722489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372260252	chr12:64722502-64722503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56070736	chr12:64722506-64722507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55992405	chr12:64722507-64722508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71092957	chr12:64722512-64722513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200012565	chr12:64722554-64722555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376482592	chr12:64722613-64722614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368950439	chr12:64722648-64722649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7488186	chr12:64722653-64722654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs7960882	chr12:64722676-64722677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs186081033	chr12:64722704-64722705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570116176	chr12:64722708-64722709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7488673	chr12:64722709-64722710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64714800-64724000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:64715000-64738000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:64718200-64722600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:64724000-64724400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:64724400-64732200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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