Variant report

Variant	esv3331408
Chromosome Location	chr12:75802635-75804733
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	chr12:75801711..75804110-chr12:75811039..75813562,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLIPR1L2-1	chr12:75804214-75804459	NR_072995

Extended variants
information (count: 85 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4882622	chr12:75802642-75802643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs200210247	chr12:75802653-75802654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79987080	chr12:75802656-75802657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114445912	chr12:75802672-75802673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151127613	chr12:75802681-75802682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373968673	chr12:75802693-75802694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11180492	chr12:75802773-75802774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11616068	chr12:75802788-75802789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs546672238	chr12:75802803-75802804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550591967	chr12:75802839-75802840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10879909	chr12:75802904-75802905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs141097000	chr12:75802907-75802908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201376339	chr12:75802909-75802910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192655093	chr12:75802965-75802966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78815057	chr12:75802986-75802987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112780124	chr12:75802988-75802989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554424131	chr12:75803018-75803019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149779865	chr12:75803041-75803042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35454960	chr12:75803124-75803125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368708413	chr12:75803146-75803147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184311215	chr12:75803151-75803152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188743008	chr12:75803194-75803195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536370521	chr12:75803204-75803205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567731564	chr12:75803234-75803235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192144676	chr12:75803243-75803244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199625413	chr12:75803336-75803337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201804369	chr12:75803345-75803346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11180493	chr12:75803347-75803348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561488674	chr12:75803358-75803359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12833151	chr12:75803360-75803361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs12833152	chr12:75803362-75803363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12810160	chr12:75803370-75803371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563816037	chr12:75803405-75803406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575940419	chr12:75803420-75803421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552575708	chr12:75803456-75803457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544481922	chr12:75803459-75803460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372306470	chr12:75803479-75803480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184755134	chr12:75803480-75803481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189677303	chr12:75803514-75803515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140477276	chr12:75803535-75803536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180814474	chr12:75803547-75803548	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs540348460	chr12:75803562-75803563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111393259	chr12:75803574-75803575	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs369982082	chr12:75803599-75803600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560586069	chr12:75803607-75803608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534064942	chr12:75803618-75803619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528283195	chr12:75803621-75803622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551590233	chr12:75803637-75803638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571348547	chr12:75803691-75803692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530852801	chr12:75803714-75803715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75785600-75813800	Weak transcription	Ovary	ovary
2	chr12:75794400-75818200	Weak transcription	Left Ventricle	heart

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