Variant report

Variant	esv3693123
Chromosome Location	chr12:60755248-60757479
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	chr12:60755566-60755756	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:60755679-60755697	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60712942..60715353-chr12:60755743..60757323,2	MCF-7	breast:
2	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:

Variant related genes	Relation type
ENSG00000251822	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546964906	chr12:60755571-60755572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs566832321	chr12:60755572-60755573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116881553	chr12:60755577-60755578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549474019	chr12:60755583-60755584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569490260	chr12:60755591-60755592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538421090	chr12:60755643-60755644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558193874	chr12:60755652-60755653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571903029	chr12:60755674-60755675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs142004686	chr12:60755682-60755683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552558456	chr12:60755712-60755713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs188212885	chr12:60755720-60755721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540552073	chr12:60756855-60756856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560462203	chr12:60756880-60756881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140422258	chr12:60757003-60757004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115402018	chr12:60757053-60757054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187502703	chr12:60757067-60757068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531840072	chr12:60757081-60757082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370558060	chr12:60757096-60757097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551537523	chr12:60757111-60757112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538540564	chr12:60757119-60757120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539936890	chr12:60757143-60757144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565496648	chr12:60757162-60757163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527846877	chr12:60757222-60757223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547717831	chr12:60757223-60757224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144281571	chr12:60757276-60757277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550340072	chr12:60757297-60757298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151151680	chr12:60757330-60757331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570026325	chr12:60757358-60757359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548578007	chr12:60757400-60757401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191844425	chr12:60757409-60757410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537970454	chr12:60757430-60757431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1504453	chr12:60757446-60757447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1021886	chr12:60757479-60757480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
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
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
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
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60756800-60757600	Enhancers	Fetal Heart	heart

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