Variant report

Variant	nsv826200
Chromosome Location	chr12:4740875-4742902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12424286	chr12:4740895-4740896	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570144663	chr12:4740939-4740940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117733278	chr12:4740944-4740945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74060073	chr12:4740955-4740956	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573202300	chr12:4740986-4740987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12184480	chr12:4741011-4741012	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555964430	chr12:4741023-4741024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187148028	chr12:4741100-4741101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374348007	chr12:4741140-4741141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544719850	chr12:4741149-4741150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564445318	chr12:4741238-4741239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191593254	chr12:4741259-4741260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111303022	chr12:4741291-4741292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34042924	chr12:4741330-4741331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117795187	chr12:4741346-4741347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185256627	chr12:4741360-4741361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547264395	chr12:4741368-4741369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528442650	chr12:4741384-4741385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143631496	chr12:4741387-4741388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34495938	chr12:4741388-4741389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397821028	chr12:4741392-4741393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548074032	chr12:4741404-4741405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568280971	chr12:4741417-4741418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565514805	chr12:4741428-4741429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550625481	chr12:4741434-4741435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12184474	chr12:4741436-4741437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539009223	chr12:4741455-4741456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188530053	chr12:4741463-4741464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141469745	chr12:4741478-4741479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566813287	chr12:4741479-4741480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375017143	chr12:4741485-4741486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7311845	chr12:4741486-4741487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7295274	chr12:4741496-4741497	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs4766263	chr12:4741503-4741504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs565065347	chr12:4741541-4741542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193109322	chr12:4741545-4741546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12313377	chr12:4741561-4741562	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs578146299	chr12:4741572-4741573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116057569	chr12:4741629-4741630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185509117	chr12:4741663-4741664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74367472	chr12:4741708-4741709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542135868	chr12:4741758-4741759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556191141	chr12:4741791-4741792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372895920	chr12:4741799-4741800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368394342	chr12:4741802-4741803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530149036	chr12:4741819-4741820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557662111	chr12:4741830-4741831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189460771	chr12:4741858-4741859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79652528	chr12:4741865-4741866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10444479	chr12:4741866-4741867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:4737600-4757400	Weak transcription	Pancreas	Pancrea
4	chr12:4737800-4742200	Weak transcription	Left Ventricle	heart
5	chr12:4737800-4757200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:4738800-4741600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:4739200-4741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:4740000-4741000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:4740000-4741400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:4740000-4741600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:4740400-4741400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:4742600-4743000	Enhancers	Primary neutrophils fromperipheralblood	blood

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