Variant report

Variant	nsv983379
Chromosome Location	chr12:8419397-8423114
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191677791	chr12:8419434-8419435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6486921	chr12:8419501-8419502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115469001	chr12:8419581-8419582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7977283	chr12:8419589-8419590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367709345	chr12:8419608-8419609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181793117	chr12:8419626-8419627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs118030070	chr12:8419661-8419662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186415004	chr12:8419675-8419676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191102000	chr12:8419687-8419688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11044341	chr12:8419693-8419694	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144791434	chr12:8419699-8419700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552505073	chr12:8419706-8419707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182809978	chr12:8419711-8419712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148211763	chr12:8419736-8419737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141217189	chr12:8419749-8419750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186768810	chr12:8419843-8419844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530542183	chr12:8419882-8419883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189852453	chr12:8419899-8419900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200744882	chr12:8419926-8419927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550127253	chr12:8419976-8419977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146176869	chr12:8420021-8420022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76198965	chr12:8420044-8420045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201298743	chr12:8420045-8420046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79006583	chr12:8420068-8420069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139130846	chr12:8420112-8420113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2714090	chr12:8420141-8420142	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554080110	chr12:8420146-8420147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144143242	chr12:8420148-8420149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35602876	chr12:8420149-8420150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113157086	chr12:8420165-8420166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115646647	chr12:8420174-8420175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35069328	chr12:8420181-8420182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116374457	chr12:8420197-8420198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59384268	chr12:8420212-8420213	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs59527049	chr12:8420221-8420222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373702040	chr12:8420302-8420303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183232851	chr12:8420324-8420325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188834082	chr12:8420362-8420363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563030682	chr12:8420383-8420384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149708409	chr12:8420388-8420389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75682861	chr12:8420433-8420434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566542088	chr12:8420479-8420480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193050923	chr12:8420493-8420494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139183011	chr12:8420503-8420504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185082671	chr12:8420516-8420517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200530964	chr12:8420518-8420519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188793065	chr12:8420541-8420542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12811342	chr12:8420549-8420550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145477762	chr12:8420550-8420551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370015335	chr12:8420553-8420554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8396800-8422800	Weak transcription	Pancreas	Pancrea
2	chr12:8418600-8421600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:8418600-8423400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:8419600-8419800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:8419800-8420800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:8420800-8422400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:8421600-8422000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:8422000-8423400	Enhancers	Monocytes-CD14+_RO01746	blood

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