Variant report

Variant	esv6212
Chromosome Location	chr12:29573143-29573999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERGIC2-1	chr12:29573270-29573303	XLOC_010039

Extended variants
information (count: 30 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550348625	chr12:29573210-29573211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188650273	chr12:29573270-29573271	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs538730137	chr12:29573282-29573283	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs553780158	chr12:29573292-29573293	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs565519613	chr12:29573326-29573327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374886660	chr12:29573421-29573422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368518523	chr12:29573422-29573423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536584365	chr12:29573476-29573477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554584305	chr12:29573575-29573576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375616900	chr12:29573595-29573596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533260440	chr12:29573622-29573623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566840614	chr12:29573640-29573641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370019513	chr12:29573641-29573642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575904568	chr12:29573741-29573742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543217769	chr12:29573743-29573744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558289624	chr12:29573744-29573745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11838057	chr12:29573833-29573834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181419655	chr12:29573839-29573840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573685566	chr12:29573859-29573860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572362609	chr12:29573862-29573863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542977510	chr12:29573868-29573869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561568963	chr12:29573889-29573890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532000321	chr12:29573891-29573892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550434500	chr12:29573893-29573894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565478723	chr12:29573902-29573903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532275635	chr12:29573948-29573949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11831164	chr12:29573986-29573987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185216139	chr12:29573993-29573994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565736235	chr12:29573995-29573996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535891976	chr12:29573997-29573998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	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
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29571000-29583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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