Variant report

Variant	nsv1041589
Chromosome Location	chr12:83861093-83890080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC59-5	chr12:83866039-83866379	XLOC_010142

Extended variants
information (count: 792 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77725841	chr12:83861261-83861262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs554149277	chr12:83861266-83861267	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185372130	chr12:83861302-83861303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs117623170	chr12:83861333-83861334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189438732	chr12:83861336-83861337	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs1907075	chr12:83861344-83861345	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541599138	chr12:83861356-83861357	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs553236340	chr12:83861376-83861377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373326768	chr12:83861411-83861412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs527753964	chr12:83861413-83861414	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535222917	chr12:83861434-83861435	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs77558263	chr12:83861439-83861440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs61929385	chr12:83861441-83861442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs12831230	chr12:83861442-83861443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145014251	chr12:83861456-83861457	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145462455	chr12:83861473-83861474	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs4084723	chr12:83861484-83861485	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545304464	chr12:83861490-83861491	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs116049529	chr12:83861496-83861497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530896311	chr12:83861501-83861502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4104252	chr12:83861506-83861507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148839822	chr12:83861522-83861523	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs565168751	chr12:83861541-83861542	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs74106449	chr12:83861585-83861586	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181406838	chr12:83861618-83861619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34607436	chr12:83861645-83861646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs76472573	chr12:83861654-83861655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs367857797	chr12:83861656-83861657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529751754	chr12:83861666-83861667	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146477769	chr12:83861686-83861687	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183604023	chr12:83861709-83861710	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141037480	chr12:83861777-83861778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574613277	chr12:83861784-83861785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs3103514	chr12:83861793-83861794	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536629952	chr12:83861840-83861841	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559023588	chr12:83861844-83861845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs9651972	chr12:83861845-83861846	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188268931	chr12:83861846-83861847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77717850	chr12:83861870-83861871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs3103513	chr12:83861945-83861946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78189920	chr12:83862046-83862047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs3103512	chr12:83862095-83862096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7316174	chr12:83862113-83862114	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7316185	chr12:83862134-83862135	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs375769931	chr12:83862138-83862139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200774750	chr12:83862232-83862233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181029299	chr12:83862280-83862281	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368519517	chr12:83862282-83862283	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549656933	chr12:83862316-83862317	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186388768	chr12:83862333-83862334	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83859800-83866400	Active TSS	Fetal Heart	heart
2	chr12:83862800-83863200	Enhancers	Hela-S3	cervix
3	chr12:83863200-83863800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:83863400-83863800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:83863400-83864000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:83863600-83864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:83863600-83864000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:83863600-83864200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:83863800-83864000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:83865400-83866200	Active TSS	Right Ventricle	heart
11	chr12:83866200-83866400	Enhancers	Left Ventricle	heart
12	chr12:83866400-83866800	Flanking Active TSS	Fetal Heart	heart
13	chr12:83866800-83871400	Enhancers	Fetal Heart	heart
14	chr12:83867000-83867200	Enhancers	Left Ventricle	heart
15	chr12:83867200-83867400	Enhancers	Liver	Liver
16	chr12:83867200-83867800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr12:83867400-83867800	Flanking Active TSS	Liver	Liver
18	chr12:83867800-83868000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:83867800-83872000	Enhancers	Liver	Liver
20	chr12:83868800-83871400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:83870400-83872000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr12:83870600-83871000	Enhancers	Hela-S3	cervix
23	chr12:83871200-83872000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:83871200-83872000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:83871400-83871800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:83871400-83872000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:83871400-83872000	Flanking Active TSS	Fetal Heart	heart
28	chr12:83871400-83872000	Enhancers	Fetal Lung	lung
29	chr12:83871800-83872000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:83872000-83873000	Enhancers	Fetal Heart	heart
31	chr12:83879200-83879800	Enhancers	Colon Smooth Muscle	Colon
32	chr12:83879800-83886200	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:83886200-83886400	Enhancers	Colon Smooth Muscle	Colon

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