Variant report

Variant	nsv521482
Chromosome Location	chr12:9153146-9153932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10400562	chr12:9153146-9153147	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528500364	chr12:9153182-9153183	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147407799	chr12:9153209-9153210	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10400563	chr12:9153257-9153258	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs12304948	chr12:9153374-9153375	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181160141	chr12:9153388-9153389	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12824212	chr12:9153417-9153418	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs185757058	chr12:9153486-9153487	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567864132	chr12:9153487-9153488	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138068883	chr12:9153512-9153513	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1805677	chr12:9153559-9153560	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs189784397	chr12:9153607-9153608	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182958701	chr12:9153716-9153717	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143927155	chr12:9153746-9153747	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147263703	chr12:9153839-9153840	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188753308	chr12:9153899-9153900	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540043014	chr12:9153906-9153907	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11048434	chr12:9153932-9153933	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9146400-9161200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:9149400-9155800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:9149600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9149600-9161000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:9150000-9160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:9150000-9161000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:9150000-9162000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:9150000-9164000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9150200-9154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:9151200-9155000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:9151600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9152000-9153600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:9152000-9155800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr12:9152200-9154000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:9152200-9154400	Enhancers	Primary T cells from cord blood	blood
19	chr12:9152400-9154000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:9152400-9167600	Weak transcription	Left Ventricle	heart
21	chr12:9152600-9153200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr12:9152800-9153800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:9152800-9155800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:9153000-9154400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:9153200-9153800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:9153400-9154200	Weak transcription	Spleen	Spleen
27	chr12:9153600-9154000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:9153800-9155600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:9153800-9155600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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