Variant report

Variant	esv1846332
Chromosome Location	chr12:60522725-60541932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60541351..60544237-chr12:60546904..60548454,2	K562	blood:
2	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
3	chr12:60535718..60536628-chr12:60888012..60888523,2	MCF-7	breast:
4	chr12:60540346..60541953-chr12:60546209..60549149,2	MCF-7	breast:
5	chr12:60532105..60534089-chr12:60535432..60537757,2	K562	blood:
6	chr12:60539977..60540691-chr18:58172003..58172727,2	MCF-7	breast:
7	chr12:60540647..60543131-chr12:62652569..62655278,2	K562	blood:

Variant related genes	Relation type
ENSG00000198673	chromatin interactions
ENSG00000135655	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11173332	chr12:60522725-60522726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187284016	chr12:60522746-60522747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191659188	chr12:60522760-60522761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560552008	chr12:60522768-60522769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73109764	chr12:60522800-60522801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74098523	chr12:60522806-60522807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74098525	chr12:60522836-60522837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374221770	chr12:60522867-60522868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538336333	chr12:60522912-60522913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552029432	chr12:60522957-60522958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183524419	chr12:60523091-60523092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114134052	chr12:60523110-60523111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188473221	chr12:60523155-60523156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572798413	chr12:60523277-60523278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145888594	chr12:60523296-60523297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554934054	chr12:60523316-60523317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193107520	chr12:60523348-60523349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543882340	chr12:60523371-60523372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185836102	chr12:60523423-60523424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4758852	chr12:60523439-60523440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4758853	chr12:60523462-60523463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4758854	chr12:60523480-60523481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112659781	chr12:60523484-60523485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73109768	chr12:60523499-60523500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562845498	chr12:60523512-60523513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189301161	chr12:60523520-60523521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541659153	chr12:60523552-60523553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571831849	chr12:60523569-60523570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191383186	chr12:60523573-60523574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548077767	chr12:60523581-60523582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374386690	chr12:60523600-60523601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539493592	chr12:60531011-60531012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11173336	chr12:60531030-60531031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs557911625	chr12:60531045-60531046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192732047	chr12:60531049-60531050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141893064	chr12:60531123-60531124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150633553	chr12:60531184-60531185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73368872	chr12:60531212-60531213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529802359	chr12:60531223-60531224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185046097	chr12:60531238-60531239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139700237	chr12:60531248-60531249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574418357	chr12:60531259-60531260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531813302	chr12:60531299-60531300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551736304	chr12:60531371-60531372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34345852	chr12:60531396-60531397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140728230	chr12:60531422-60531423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571805215	chr12:60531478-60531479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11173337	chr12:60531507-60531508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs189560691	chr12:60531522-60531523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182093667	chr12:60531523-60531524	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60517800-60523600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60531000-60531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:60531200-60531800	Enhancers	A549	lung
4	chr12:60531200-60532000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:60532000-60536800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:60533200-60533400	Enhancers	Aorta	Aorta
7	chr12:60534400-60535000	Enhancers	Small Intestine	intestine
8	chr12:60535000-60535400	Enhancers	K562	blood
9	chr12:60535400-60537000	Weak transcription	K562	blood
10	chr12:60536800-60540600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:60537000-60537200	Enhancers	K562	blood
12	chr12:60537000-60540000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:60537200-60537600	Weak transcription	K562	blood
14	chr12:60537400-60538200	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:60537600-60537800	Enhancers	K562	blood
16	chr12:60537800-60538200	Flanking Active TSS	K562	blood
17	chr12:60538200-60538400	Enhancers	K562	blood
18	chr12:60538200-60539000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:60538400-60538600	Flanking Active TSS	K562	blood
20	chr12:60538600-60538800	Enhancers	K562	blood
21	chr12:60538800-60540000	Weak transcription	K562	blood
22	chr12:60540000-60540400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:60540000-60540600	Enhancers	K562	blood
24	chr12:60540000-60542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:60540200-60541800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:60540200-60542600	Enhancers	NHDF-Ad	bronchial
27	chr12:60540400-60540600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:60540400-60542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:60540400-60543400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:60540600-60541600	Weak transcription	K562	blood
31	chr12:60540600-60541800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:60540600-60542400	Enhancers	NHLF	lung
33	chr12:60541200-60542600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:60541400-60542000	Enhancers	NH-A	brain
35	chr12:60541400-60542400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:60541400-60542800	Enhancers	HMEC	breast
37	chr12:60541400-60542800	Enhancers	HUVEC	blood vessel
38	chr12:60541400-60542800	Enhancers	NHEK	skin
39	chr12:60541400-60543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:60541600-60542000	Enhancers	HSMM	muscle
41	chr12:60541600-60542200	Flanking Active TSS	K562	blood
42	chr12:60541600-60542600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:60541600-60542600	Enhancers	Hela-S3	cervix
44	chr12:60541800-60542000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:60541800-60542400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:60541800-60542400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:60541800-60543200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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