Variant report

Variant	esv1827225
Chromosome Location	chr12:40873026-40894172
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	chr12:40882994..40885029-chr12:40904694..40907438,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40879237-40885130	NONHSAT027728
2	lnc-MUC19-1	chr12:40872855-40879178	NONHSAT027728

Extended variants
information (count: 847 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:847 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1492313	chr12:40873026-40873027	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549466441	chr12:40873041-40873042	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs373775770	chr12:40873042-40873043	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144506146	chr12:40873053-40873054	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs1867435	chr12:40873089-40873090	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117077561	chr12:40873122-40873123	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571647015	chr12:40873161-40873162	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs570871631	chr12:40873212-40873213	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs2588400	chr12:40873251-40873252	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs55755644	chr12:40873252-40873253	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs11176811	chr12:40873278-40873279	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543112961	chr12:40873321-40873322	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555462767	chr12:40873322-40873323	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573660362	chr12:40873326-40873327	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147862409	chr12:40873378-40873379	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs566225503	chr12:40873379-40873380	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs559678403	chr12:40873404-40873405	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs193276049	chr12:40873419-40873420	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs117340774	chr12:40873457-40873458	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563299533	chr12:40873478-40873479	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs530750364	chr12:40873479-40873480	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs184988238	chr12:40873484-40873485	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs368871271	chr12:40873509-40873510	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs190276758	chr12:40873514-40873515	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs181740401	chr12:40873542-40873543	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs571309148	chr12:40873554-40873555	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs538920402	chr12:40873565-40873566	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2638862	chr12:40873572-40873573	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569791594	chr12:40873574-40873575	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs185700910	chr12:40873592-40873593	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs113061029	chr12:40873650-40873651	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs2588401	chr12:40873655-40873656	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs555488111	chr12:40873716-40873717	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs573824625	chr12:40873724-40873725	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs534600094	chr12:40873731-40873732	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs552958550	chr12:40873734-40873735	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs577722220	chr12:40873740-40873741	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs2588402	chr12:40873763-40873764	ZNF genes & repeats Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs367931282	chr12:40873765-40873766	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs145925435	chr12:40873770-40873771	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs80355281	chr12:40873781-40873782	ZNF genes & repeats Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2638863	chr12:40873808-40873809	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs115105929	chr12:40873860-40873861	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs375024338	chr12:40873868-40873869	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs561044025	chr12:40873873-40873874	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs528516101	chr12:40873880-40873881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs546695093	chr12:40873883-40873884	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs564900554	chr12:40873889-40873890	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188795605	chr12:40873898-40873899	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550973213	chr12:40873901-40873902	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40872800-40873600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr12:40872800-40873800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:40872800-40873800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:40873000-40873200	ZNF genes & repeats	HMEC	breast
5	chr12:40873800-40875800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:40877600-40878000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr12:40877600-40878800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:40878200-40878800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links