Variant report

Variant	nsv8933
Chromosome Location	chr12:30299350-30306786
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	chr10:66245243..66246004-chr12:30303874..30304490,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114460354	chr12:30299376-30299377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57998065	chr12:30299387-30299388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578170271	chr12:30299395-30299396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545499047	chr12:30299436-30299437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534818963	chr12:30299481-30299482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572286768	chr12:30299485-30299486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151267265	chr12:30299515-30299516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10771640	chr12:30299556-30299557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531503544	chr12:30299563-30299564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185593930	chr12:30299582-30299583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10771641	chr12:30299589-30299590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10771642	chr12:30299593-30299594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572284592	chr12:30299642-30299643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547104189	chr12:30299649-30299650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140541113	chr12:30299707-30299708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527880318	chr12:30299717-30299718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549304701	chr12:30299718-30299719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567993197	chr12:30299749-30299750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546003605	chr12:30299786-30299787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188824847	chr12:30299800-30299801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571692311	chr12:30299827-30299828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370479260	chr12:30299833-30299834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145629626	chr12:30299850-30299851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138497663	chr12:30299864-30299865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs901074	chr12:30299869-30299870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141423161	chr12:30299870-30299871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs901075	chr12:30299871-30299872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181625976	chr12:30299933-30299934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543372543	chr12:30299970-30299971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114992403	chr12:30299972-30299973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145137272	chr12:30300011-30300012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76341322	chr12:30300026-30300027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183920401	chr12:30300027-30300028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs901076	chr12:30300061-30300062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs901077	chr12:30300105-30300106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11050681	chr12:30300121-30300122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531907997	chr12:30300135-30300136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116567784	chr12:30300173-30300174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571930599	chr12:30300250-30300251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372384618	chr12:30300262-30300263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2351209	chr12:30300272-30300273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547809831	chr12:30300282-30300283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545579863	chr12:30300310-30300311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138895927	chr12:30300332-30300333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2351210	chr12:30300346-30300347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2351211	chr12:30300377-30300378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549613494	chr12:30300454-30300455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188704048	chr12:30300495-30300496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2351212	chr12:30300509-30300510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558431253	chr12:30300512-30300513	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Ewing''s sarcoma	17952124	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 myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30297400-30299400	Enhancers	NHDF-Ad	bronchial
2	chr12:30297600-30300600	Enhancers	HSMMtube	muscle
3	chr12:30298000-30299400	Enhancers	Osteobl	bone
4	chr12:30299200-30300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:30304800-30305200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:30305200-30306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:30305200-30306000	Enhancers	Pancreatic Islets	Pancreatic Islet

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