Variant report

Variant	esv3423537
Chromosome Location	chr12:60064510-60067258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60062523..60065059-chr12:60067387..60069587,2	MCF-7	breast:

Extended variants
information (count: 190 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs76486874	chr12:60064512-60064513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573681271	chr12:60064561-60064562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377510589	chr12:60064562-60064563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145423015	chr12:60064567-60064568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562565298	chr12:60064599-60064600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142651839	chr12:60064629-60064630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371685211	chr12:60064630-60064631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565223105	chr12:60064650-60064651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200973967	chr12:60064690-60064691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188055829	chr12:60064697-60064698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547504561	chr12:60064712-60064713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561416275	chr12:60064749-60064750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146896454	chr12:60064833-60064834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147930659	chr12:60064862-60064863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141708473	chr12:60064863-60064864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538904858	chr12:60064886-60064887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191656090	chr12:60064934-60064935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534318197	chr12:60064975-60064976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376436650	chr12:60064988-60064989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533522542	chr12:60065038-60065039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184566295	chr12:60065049-60065050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573653549	chr12:60065067-60065068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187353588	chr12:60065077-60065078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148112293	chr12:60065117-60065118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192141156	chr12:60065125-60065126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369273921	chr12:60065130-60065131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140950025	chr12:60065132-60065133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376801077	chr12:60065151-60065152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370932739	chr12:60065169-60065170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150188448	chr12:60065181-60065182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4760299	chr12:60065200-60065201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs565157822	chr12:60065280-60065281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185694812	chr12:60065283-60065284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541380357	chr12:60065296-60065297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190553816	chr12:60065403-60065404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530158837	chr12:60065407-60065408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550013751	chr12:60065435-60065436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375581836	chr12:60065440-60065441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201937478	chr12:60065455-60065456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77196064	chr12:60065457-60065458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11173109	chr12:60065459-60065460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368528646	chr12:60065460-60065461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11173110	chr12:60065461-60065462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565014270	chr12:60065463-60065464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113266093	chr12:60065471-60065472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566016690	chr12:60065473-60065474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545222277	chr12:60065485-60065486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561648895	chr12:60065508-60065509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375651646	chr12:60065511-60065512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376667858	chr12:60065555-60065556	Weak transcription	n/a	n/a	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60026600-60089200	Weak transcription	Gastric	stomach
2	chr12:60045600-60071800	Weak transcription	Ovary	ovary
3	chr12:60045800-60085400	Weak transcription	NHDF-Ad	bronchial
4	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:60050000-60068600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:60055400-60071000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:60058800-60080200	Weak transcription	Fetal Heart	heart
9	chr12:60059400-60071600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:60059800-60071800	Weak transcription	Psoas Muscle	Psoas
11	chr12:60061600-60071400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:60061600-60074800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:60061800-60066200	Weak transcription	Primary B cells from cord blood	blood
14	chr12:60061800-60071600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:60061800-60071600	Weak transcription	Esophagus	oesophagus
16	chr12:60062200-60064600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:60062200-60069000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:60062200-60071000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:60062200-60071600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:60062200-60071600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:60062200-60071600	Weak transcription	Fetal Stomach	stomach
22	chr12:60062200-60071600	Weak transcription	Pancreas	Pancrea
23	chr12:60062200-60071600	Weak transcription	Right Ventricle	heart
24	chr12:60062200-60071600	Weak transcription	Thymus	Thymus
25	chr12:60062200-60071800	Weak transcription	Aorta	Aorta
26	chr12:60062200-60085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:60062400-60071000	Weak transcription	Dnd41	blood
28	chr12:60063200-60066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:60064000-60068600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:60064400-60064800	Enhancers	Left Ventricle	heart
31	chr12:60064400-60071200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:60064600-60065000	Enhancers	Adipose Nuclei	Adipose
33	chr12:60064800-60071600	Weak transcription	Left Ventricle	heart
34	chr12:60065000-60071200	Weak transcription	Adipose Nuclei	Adipose
35	chr12:60066200-60066400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:60066200-60066600	Strong transcription	Primary B cells from cord blood	blood
37	chr12:60066600-60067600	Weak transcription	Primary B cells from cord blood	blood
38	chr12:60066800-60071600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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