Variant report

Variant	nsv8985
Chromosome Location	chr12:66905338-66906752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66905511..66907339-chr12:66908597..66911172,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533476482	chr12:66905352-66905353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111646297	chr12:66905367-66905368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7973560	chr12:66905383-66905384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs537671930	chr12:66905395-66905396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7973654	chr12:66905405-66905406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187526315	chr12:66905466-66905467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148665335	chr12:66905554-66905555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143807290	chr12:66905579-66905580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146684611	chr12:66905639-66905640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536220024	chr12:66905664-66905665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28513666	chr12:66905678-66905679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557594309	chr12:66905703-66905704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140216861	chr12:66905716-66905717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543228058	chr12:66905786-66905787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7976952	chr12:66905792-66905793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144883575	chr12:66905809-66905810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540985620	chr12:66905820-66905821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116526318	chr12:66905835-66905836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149045791	chr12:66905858-66905859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567766670	chr12:66905978-66905979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551832047	chr12:66906016-66906017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146069476	chr12:66906035-66906036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531095312	chr12:66906041-66906042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138941691	chr12:66906061-66906062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61925952	chr12:66906063-66906064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61925953	chr12:66906094-66906095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576788692	chr12:66906107-66906108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535323620	chr12:66906125-66906126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1813738	chr12:66906145-66906146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2009924	chr12:66906170-66906171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7488693	chr12:66906183-66906184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556159618	chr12:66906186-66906187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553426699	chr12:66906260-66906261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12099548	chr12:66906276-66906277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs7977592	chr12:66906325-66906326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192638119	chr12:66906339-66906340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146989472	chr12:66906352-66906353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540924231	chr12:66906357-66906358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369117380	chr12:66906474-66906475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184755901	chr12:66906514-66906515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372632167	chr12:66906551-66906552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577956563	chr12:66906578-66906579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7977856	chr12:66906586-66906587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75614362	chr12:66906610-66906611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531032263	chr12:66906628-66906629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543206099	chr12:66906668-66906669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187632439	chr12:66906681-66906682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148041899	chr12:66906744-66906745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
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
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66890600-66909200	Weak transcription	Pancreas	Pancrea
2	chr12:66897600-66912600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:66900400-66908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:66900600-66909800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:66902200-66910200	Weak transcription	HMEC	breast
6	chr12:66902600-66909600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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