Variant report

Variant	esv3445765
Chromosome Location	chr12:40883611-40884468
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

Extended variants
information (count: 68 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540315082	chr12:40883618-40883619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs565283264	chr12:40883619-40883620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs577573520	chr12:40883620-40883621	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs367665459	chr12:40883629-40883630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs111307734	chr12:40883630-40883631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs544937461	chr12:40883635-40883636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs199827389	chr12:40883636-40883637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs563044506	chr12:40883647-40883648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530347781	chr12:40883650-40883651	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549049105	chr12:40883652-40883653	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs77881467	chr12:40883657-40883658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs528090161	chr12:40883674-40883675	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs78081795	chr12:40883680-40883681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs376653007	chr12:40883735-40883736	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs2638875	chr12:40883745-40883746	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570924734	chr12:40883749-40883750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs538514361	chr12:40883758-40883759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2638876	chr12:40883775-40883776	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568694294	chr12:40883777-40883778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs2588392	chr12:40883781-40883782	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2638877	chr12:40883786-40883787	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573209248	chr12:40883794-40883795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs534310030	chr12:40883795-40883796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs558958381	chr12:40883800-40883801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs577332724	chr12:40883861-40883862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs544900697	chr12:40883887-40883888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs61916098	chr12:40883904-40883905	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574970311	chr12:40883985-40883986	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs542106265	chr12:40883986-40883987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs202197613	chr12:40884045-40884046	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200242304	chr12:40884046-40884047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs560743241	chr12:40884057-40884058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs2588393	chr12:40884061-40884062	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540342433	chr12:40884082-40884083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs564515141	chr12:40884094-40884095	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs2638878	chr12:40884097-40884098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs111665486	chr12:40884101-40884102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs550450221	chr12:40884111-40884112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs568858317	chr12:40884112-40884113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs386762384	chr12:40884115-40884116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs111718215	chr12:40884118-40884119	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs374336168	chr12:40884122-40884123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs377461254	chr12:40884126-40884127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs374303471	chr12:40884129-40884130	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs36140070	chr12:40884130-40884131	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs374681578	chr12:40884196-40884197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs78477830	chr12:40884206-40884207	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs79690920	chr12:40884212-40884213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs78559489	chr12:40884216-40884217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs78685867	chr12:40884218-40884219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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