Variant report

Variant	esv2600025
Chromosome Location	chr12:59921061-59939592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr12:59928657-59928995	GM12878	blood:	n/a	n/a
2	BCL3	chr12:59928674-59929037	GM12878	blood:	n/a	n/a
3	BCL3	chr12:59928231-59928552	GM12878	blood:	n/a	n/a
4	CEBPB	chr12:59928811-59928850	A549	lung:	n/a	n/a
5	CTCF	chr12:59923861-59923887	H1-hESC	embryonic stem cell:	n/a	n/a
6	IRF1	chr12:59922062-59922098	K562	blood:	n/a	n/a
7	MYC	chr12:59923345-59923478	MCF10A-Er-Src	breast:	n/a	n/a
8	PBX3	chr12:59930497-59930722	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:59925037-59925087	T-47D	breast:	n/a
2	chr12:59925037-59925087	NH-A	brain:	n/a
3	chr12:59924853-59924903	HRE	kidney:	n/a
4	chr12:59925037-59925087	HMEC	breast:	n/a
5	chr12:59924853-59924903	K562	blood:	n/a
6	chr12:59925323-59925373	HAEpiC	amniotic membrane:	n/a
7	chr12:59925323-59925373	AoSMC	blood vessel:	n/a
8	chr12:59924853-59924903	AG10803	skin:	n/a
9	chr12:59924853-59924903	T-47D	breast:	n/a
10	chr12:59925037-59925087	Caco-2	colon:	n/a
11	chr12:59925037-59925087	AG04450	lung:	fetal
12	chr12:59925037-59925087	SK-N-SH	brain:	n/a
13	chr12:59925323-59925373	PFSK-1	brain:	n/a
14	chr12:59925037-59925087	RPTEC	kidney:	n/a
15	chr12:59925037-59925087	LNCaP	prostate:	n/a
16	chr12:59925323-59925373	Jurkat	blood:	n/a
17	chr12:59925037-59925087	HRCEpiC	kidney:	n/a
18	chr12:59925037-59925087	HCM	heart:	n/a
19	chr12:59925037-59925087	ProgFib	skin:	n/a
20	chr12:59924853-59924903	ECC-1	luminal epithelium:	n/a
21	chr12:59925323-59925373	LNCaP	prostate:	n/a
22	chr12:59925037-59925087	IMR90	lung:	fetal
23	chr12:59925323-59925373	AG09309	skin:	n/a
24	chr12:59924853-59924903	AG09309	skin:	n/a
25	chr12:59925323-59925373	IMR90	lung:	fetal
26	chr12:59925037-59925087	U87	brain:	n/a
27	chr12:59924853-59924903	NB4	blood:	n/a
28	chr12:59925037-59925087	SKMC	muscle:	n/a
29	chr12:59924853-59924903	ProgFib	skin:	n/a
30	chr12:59925037-59925087	HUVEC	blood vessel:	n/a
31	chr12:59925037-59925087	Jurkat	blood:	n/a
32	chr12:59925037-59925087	HCF	heart:	n/a
33	chr12:59925323-59925373	HEEpiC	esophagus:	n/a
34	chr12:59925037-59925087	H1-hESC	embryonic stem cell:	embryo
35	chr12:59924853-59924903	HNPCEpiC	eye:	n/a
36	chr12:59924853-59924903	SAEC	small airway:	n/a
37	chr12:59925037-59925087	ovcar-3	ovarian:	n/a
38	chr12:59925323-59925373	A549	lung:	n/a
39	chr12:59925323-59925373	ovcar-3	ovarian:	n/a
40	chr12:59925037-59925087	Hepatocyte	liver:	n/a
41	chr12:59925323-59925373	ECC-1	luminal epithelium:	n/a
42	chr12:59925323-59925373	GM19239	blood:	n/a
43	chr12:59925037-59925087	PrEC	prostate:	n/a
44	chr12:59925323-59925373	Hela-S3	cervix:	n/a
45	chr12:59924853-59924903	SK-N-MC	brain:	n/a
46	chr12:59925037-59925087	HAEpiC	amniotic membrane:	n/a
47	chr12:59924853-59924903	HEEpiC	esophagus:	n/a
48	chr12:59924853-59924903	Caco-2	colon:	n/a
49	chr12:59925037-59925087	NHDF-neo	bronchial:	n/a
50	chr12:59924853-59924903	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59919709..59922642-chr12:59929595..59932355,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266724	TF binding region
ENSG00000257230	TF binding region
ENSG00000265430	TF binding region
ENSG00000266724	CpG island
ENSG00000257230	CpG island
ENSG00000265430	CpG island
ENSG00000265430	chromatin interactions
ENSG00000266724	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531320586	chr12:59922079-59922080	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
2	rs144988718	chr12:59923363-59923364	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs375691989	chr12:59923379-59923380	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs539157654	chr12:59923380-59923381	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs547552231	chr12:59923381-59923382	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs276006	chr12:59923403-59923404	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572242025	chr12:59923404-59923405	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs186904016	chr12:59923881-59923882	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs182155	chr12:59923884-59923885	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528620160	chr12:59923887-59923888	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs189868235	chr12:59924854-59924855	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
12	rs181180793	chr12:59924859-59924860	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs185276452	chr12:59924892-59924893	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs539504600	chr12:59925080-59925081	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
15	rs557501191	chr12:59925081-59925082	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
16	rs191216239	chr12:59925082-59925083	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
17	rs539566010	chr12:59925333-59925334	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
18	rs372618397	chr12:59925337-59925338	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
19	rs191078811	chr12:59929613-59929614	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182152743	chr12:59929618-59929619	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557441446	chr12:59929620-59929621	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs577478599	chr12:59929627-59929628	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs534967968	chr12:59929632-59929633	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572873596	chr12:59929711-59929712	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553176430	chr12:59929724-59929725	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574687040	chr12:59929746-59929747	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187677293	chr12:59929787-59929788	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144450559	chr12:59929804-59929805	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546204223	chr12:59929815-59929816	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564289915	chr12:59929825-59929826	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146599923	chr12:59929859-59929860	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141314180	chr12:59929869-59929870	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555743826	chr12:59929871-59929872	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs529109298	chr12:59929899-59929900	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112309190	chr12:59929964-59929965	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568955864	chr12:59929973-59929974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs117996606	chr12:59930011-59930012	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs151266460	chr12:59930018-59930019	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140446815	chr12:59930029-59930030	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs402342	chr12:59930050-59930051	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371295317	chr12:59930065-59930066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs568376844	chr12:59930069-59930070	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs535656758	chr12:59930126-59930127	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375050815	chr12:59930141-59930142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs557245434	chr12:59930146-59930147	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs113587340	chr12:59930165-59930166	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs138674468	chr12:59930208-59930209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs558163496	chr12:59930255-59930256	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573273387	chr12:59930268-59930269	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115291932	chr12:59930280-59930281	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	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
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

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

No data

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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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