Variant report

Variant	nsv826466
Chromosome Location	chr12:85547493-85548816
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	POLR2A	chr12:85547891-85548067	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
LRRIQ1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536902564	chr12:85547812-85547813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs186667018	chr12:85547835-85547836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs193214509	chr12:85547850-85547851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370379672	chr12:85547887-85547888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374099716	chr12:85547904-85547905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529677472	chr12:85547909-85547910	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185722429	chr12:85547923-85547924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558554435	chr12:85547938-85547939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576913554	chr12:85547947-85547948	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs145519822	chr12:85547986-85547987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548060434	chr12:85548018-85548019	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs57830834	chr12:85548020-85548021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566398717	chr12:85548038-85548039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139515514	chr12:85548048-85548049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552724466	chr12:85548060-85548061	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs527594777	chr12:85548071-85548072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200995185	chr12:85548076-85548077	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201646134	chr12:85548077-85548078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200446638	chr12:85548081-85548082	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs398040012	chr12:85548082-85548083	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542068327	chr12:85548083-85548084	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs563427484	chr12:85548107-85548108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188568883	chr12:85548184-85548185	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145236285	chr12:85548186-85548187	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564086624	chr12:85548220-85548221	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs74114211	chr12:85548373-85548374	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs115442419	chr12:85548410-85548411	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570626475	chr12:85548438-85548439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147613901	chr12:85548495-85548496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs61539171	chr12:85548643-85548644	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112654433	chr12:85548698-85548699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs548807978	chr12:85548704-85548705	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570228585	chr12:85548708-85548709	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537780390	chr12:85548713-85548714	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85547800-85550000	Active TSS	Fetal Kidney	kidney

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