Variant report

Variant	nsv973078
Chromosome Location	chr12:58637733-58639570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:58638743-58638950	A549	lung:	n/a	chr12:58638835-58638844 chr12:58638833-58638846 chr12:58638833-58638844

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC6BP1-7	chr12:58638161-58638648	NONHSAT029022

Variant related genes	Relation type
RPL21P103	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542984689	chr12:58637744-58637745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551849844	chr12:58637767-58637768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183322228	chr12:58637768-58637769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570251477	chr12:58637770-58637771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534418787	chr12:58637800-58637801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12423403	chr12:58638165-58638166	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190640584	chr12:58638190-58638191	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs147852557	chr12:58638199-58638200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1148548	chr12:58638231-58638232	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549725886	chr12:58638243-58638244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12423429	chr12:58638253-58638254	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183212383	chr12:58638254-58638255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs564343844	chr12:58638288-58638289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs61938471	chr12:58638327-58638328	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs61938472	chr12:58638348-58638349	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536472970	chr12:58638349-58638350	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548854833	chr12:58638381-58638382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs570322938	chr12:58638396-58638397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs537745960	chr12:58638398-58638399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs11610099	chr12:58638450-58638451	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117928628	chr12:58638461-58638462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs117335326	chr12:58638556-58638557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs74099127	chr12:58638564-58638565	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs12309499	chr12:58638566-58638567	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377657702	chr12:58638568-58638569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs568834623	chr12:58638595-58638596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs12302505	chr12:58638596-58638597	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12302422	chr12:58638616-58638617	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368965320	chr12:58638648-58638649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	20531469	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21364760	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58637000-58637800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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