Variant report

Variant	nsv53503
Chromosome Location	chr12:22067852-22068448
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	chr12:22061241..22063351-chr12:22065690..22068312,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541276933	chr12:22067891-22067892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376097570	chr12:22067893-22067894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557989748	chr12:22067927-22067928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551734466	chr12:22067961-22067962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563259062	chr12:22067983-22067984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187054090	chr12:22067995-22067996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370364983	chr12:22068086-22068087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576278262	chr12:22068139-22068140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557990317	chr12:22068149-22068150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565850538	chr12:22068159-22068160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377233626	chr12:22068160-22068161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139975827	chr12:22068161-22068162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75869730	chr12:22068163-22068164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534775249	chr12:22068197-22068198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200179083	chr12:22068212-22068213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200948103	chr12:22068214-22068215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201959887	chr12:22068220-22068221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200063939	chr12:22068221-22068222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201231835	chr12:22068229-22068230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12822030	chr12:22068272-22068273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573909374	chr12:22068289-22068290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571900828	chr12:22068302-22068303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192025026	chr12:22068310-22068311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12822056	chr12:22068317-22068318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12368771	chr12:22068326-22068327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576002283	chr12:22068334-22068335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535473897	chr12:22068340-22068341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12822201	chr12:22068345-22068346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12821892	chr12:22068349-22068350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541757499	chr12:22068357-22068358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7963172	chr12:22068362-22068363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12372112	chr12:22068364-22068365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528610551	chr12:22068379-22068380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12368774	chr12:22068380-22068381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564513004	chr12:22068386-22068387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12368775	chr12:22068388-22068389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7962847	chr12:22068396-22068397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7962848	chr12:22068398-22068399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367764785	chr12:22068403-22068404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7963185	chr12:22068406-22068407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375465648	chr12:22068407-22068408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111919471	chr12:22068408-22068409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374623716	chr12:22068411-22068412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71436861	chr12:22068412-22068413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373718833	chr12:22068430-22068431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181534345	chr12:22068432-22068433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185890370	chr12:22068434-22068435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	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	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22035200-22092200	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:22048000-22092000	Weak transcription	Psoas Muscle	Psoas
3	chr12:22048400-22091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:22049400-22088600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:22059400-22091800	Weak transcription	Liver	Liver
6	chr12:22060800-22092200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:22061200-22083400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:22061800-22078200	Weak transcription	Left Ventricle	heart
9	chr12:22062000-22085600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:22065000-22068600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:22065200-22077000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:22066600-22092000	Weak transcription	NHLF	lung
13	chr12:22067000-22085600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:22067800-22068600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:22067800-22070400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:22067800-22087000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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