Variant report

Variant	nsv975628
Chromosome Location	chr12:38984309-38990955
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	CTCF	chr12:38988431-38988556	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:38988469-38988544	GM10266	blood:	n/a	n/a
3	CTCF	chr12:38988371-38988674	GM12878	blood:	n/a	n/a
4	CTCF	chr12:38988476-38988548	GM19239	blood:	n/a	n/a
5	CTCF	chr12:38988437-38988541	GM13977	blood:	n/a	n/a
6	E2F4	chr12:38984614-38984757	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr12:38986469-38986669	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFF	chr12:38988771-38988937	HepG2	liver:	n/a	chr12:38988862-38988880
9	MAFK	chr12:38988737-38988986	HepG2	liver:	n/a	chr12:38988863-38988878
10	MAFK	chr12:38988768-38988964	IMR90	lung:	n/a	chr12:38988863-38988878
11	MAFK	chr12:38988806-38989002	HepG2	liver:	n/a	chr12:38988863-38988878
12	NRF1	chr12:38988612-38988641	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:38984968-38985155	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr12:38988440-38988640	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr12:38988397-38988624	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr12:38988376-38988643	GM12878	blood:	n/a	n/a
17	RAD21	chr12:38988353-38988661	Hela-S3	cervix:	n/a	n/a
18	SMC3	chr12:38988450-38988670	GM12878	blood:	n/a	n/a
19	STAT3	chr12:38989799-38989968	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr12:38990417-38990526	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:38990179..38991129-chr4:2331691..2332483,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000258119	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17124820	chr12:38984642-38984643	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140908841	chr12:38984663-38984664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2730891	chr12:38984685-38984686	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575564369	chr12:38984714-38984715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs547908511	chr12:38984718-38984719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs570304928	chr12:38984749-38984750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs137951773	chr12:38985055-38985056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531686508	chr12:38985057-38985058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140889143	chr12:38985078-38985079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571431241	chr12:38985123-38985124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527364256	chr12:38985124-38985125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547489434	chr12:38985139-38985140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs368875746	chr12:38986533-38986534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs149588286	chr12:38986563-38986564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569564449	chr12:38986574-38986575	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs115438444	chr12:38986575-38986576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558727165	chr12:38986647-38986648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567968404	chr12:38988377-38988378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs185809037	chr12:38988413-38988414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs556705012	chr12:38988445-38988446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576987914	chr12:38988450-38988451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs61221058	chr12:38988470-38988471	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552780286	chr12:38988474-38988475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs572931347	chr12:38988559-38988560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541839995	chr12:38988565-38988566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs367678118	chr12:38988606-38988607	Inactive region	TF binding region	1 gene(s)	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
Breast cancer	21509527	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
Breast cancer	21364760	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
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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