Variant report

Variant	nsv528755
Chromosome Location	chr12:117974728-117984413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117801474..117803161-chr12:117984043..117986705,2	MCF-7	breast:
2	chr12:117968610..117970355-chr12:117972527..117974840,2	K562	blood:
3	chr12:117984255..117986499-chr12:117995179..117997923,2	K562	blood:

Extended variants
information (count: 378 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7342408	chr12:117974728-117974729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188528310	chr12:117974744-117974745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112005536	chr12:117974770-117974771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553180181	chr12:117974815-117974816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192901180	chr12:117974826-117974827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183994549	chr12:117974837-117974838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541935492	chr12:117974849-117974850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2221254	chr12:117974876-117974877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572969125	chr12:117974942-117974943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139346104	chr12:117974981-117974982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564021418	chr12:117974982-117974983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202139091	chr12:117975020-117975021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565540927	chr12:117975031-117975032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376805697	chr12:117975032-117975033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567474443	chr12:117975034-117975035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144034895	chr12:117975037-117975038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7314852	chr12:117975076-117975077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529445774	chr12:117975080-117975081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367559992	chr12:117975088-117975089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146463224	chr12:117975090-117975091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531652773	chr12:117975135-117975136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551365024	chr12:117975215-117975216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571304848	chr12:117975249-117975250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187985893	chr12:117975275-117975276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4766856	chr12:117975279-117975280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs566731434	chr12:117975293-117975294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12579087	chr12:117975302-117975303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555497404	chr12:117975305-117975306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560914016	chr12:117975428-117975429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140774109	chr12:117975433-117975434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557826387	chr12:117975441-117975442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577697423	chr12:117975450-117975451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540951455	chr12:117975455-117975456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143037209	chr12:117975498-117975499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151105801	chr12:117975512-117975513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574241181	chr12:117975566-117975567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180893754	chr12:117975579-117975580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184594276	chr12:117975589-117975590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115757692	chr12:117975605-117975606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560706481	chr12:117975610-117975611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59190974	chr12:117975626-117975627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564964634	chr12:117975642-117975643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527703752	chr12:117975675-117975676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575683850	chr12:117975721-117975722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547732640	chr12:117975730-117975731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566659811	chr12:117975757-117975758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7954458	chr12:117975785-117975786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs6490128	chr12:117975866-117975867	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569062055	chr12:117975904-117975905	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs537972142	chr12:117975905-117975906	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117940200-117978600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117953000-117995600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:117957000-117995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:117963000-117977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:117963600-117979200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:117965200-117995800	Weak transcription	Pancreas	Pancrea
7	chr12:117970800-117981600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:117975000-118018200	Weak transcription	HUVEC	blood vessel
9	chr12:117975800-117976200	Bivalent Enhancer	A549	lung
10	chr12:117977400-117977800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117977400-117978000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:117981600-117981800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr12:117983400-117983800	Enhancers	Fetal Brain Male	brain
14	chr12:117983600-117992600	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links