Variant report

Variant	esv3500243
Chromosome Location	chr12:60753131-60757946
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	chr12:60755679-60755697	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr12:60755566-60755756	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:
2	chr12:60752778..60755096-chr12:60757481..60759676,2	K562	blood:
3	chr12:60712942..60715353-chr12:60755743..60757323,2	MCF-7	breast:
4	chr12:60755627..60757547-chr12:60757638..60760144,2	K562	blood:

Variant related genes	Relation type
ENSG00000251822	TF binding region
ENSG00000251822	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190633854	chr12:60753181-60753182	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184202264	chr12:60753265-60753266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7297046	chr12:60753285-60753286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1466939	chr12:60753321-60753322	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532383672	chr12:60753322-60753323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs147763316	chr12:60753336-60753337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565829384	chr12:60753348-60753349	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs188606415	chr12:60753436-60753437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71463261	chr12:60753545-60753546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568128551	chr12:60753568-60753569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191029363	chr12:60753575-60753576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79354863	chr12:60753624-60753625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577263804	chr12:60753634-60753635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540064347	chr12:60753679-60753680	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553299465	chr12:60753719-60753720	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs149013898	chr12:60753733-60753734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542556457	chr12:60753749-60753750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182448121	chr12:60753765-60753766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574513741	chr12:60753789-60753790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143811421	chr12:60753892-60753893	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545884940	chr12:60753991-60753992	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2655881	chr12:60754016-60754017	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532119328	chr12:60754023-60754024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs148151477	chr12:60754092-60754093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74093457	chr12:60754098-60754099	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76714635	chr12:60754105-60754106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548111604	chr12:60754116-60754117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141945111	chr12:60754117-60754118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2655882	chr12:60754129-60754130	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187071510	chr12:60754142-60754143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs2655883	chr12:60754147-60754148	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539552588	chr12:60754167-60754168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570285460	chr12:60754246-60754247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553402721	chr12:60754289-60754290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573512618	chr12:60754325-60754326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191826016	chr12:60754421-60754422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556143210	chr12:60754481-60754482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183896950	chr12:60754487-60754488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200346988	chr12:60754496-60754497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs56088032	chr12:60754497-60754498	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546737438	chr12:60754616-60754617	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563143398	chr12:60754619-60754620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576746356	chr12:60754655-60754656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545598161	chr12:60754658-60754659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548465397	chr12:60754691-60754692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559381422	chr12:60754710-60754711	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74093706	chr12:60754720-60754721	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547975018	chr12:60754733-60754734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187527359	chr12:60754787-60754788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530723384	chr12:60754830-60754831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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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