Variant report

Variant	esv1849219
Chromosome Location	chr12:62394002-62395774
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	chr12:62392186..62394939-chr12:62398107..62400504,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377360675	chr12:62394009-62394010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541128273	chr12:62394127-62394128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367870350	chr12:62394128-62394129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559709546	chr12:62394144-62394145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77568499	chr12:62394184-62394185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573514990	chr12:62394201-62394202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182095696	chr12:62394220-62394221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144036018	chr12:62394244-62394245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7956690	chr12:62394258-62394259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545028124	chr12:62394260-62394261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56221149	chr12:62394266-62394267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368649535	chr12:62394372-62394373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377479894	chr12:62394411-62394412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527238651	chr12:62394412-62394413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187091732	chr12:62394485-62394486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562410732	chr12:62394490-62394491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11174271	chr12:62394495-62394496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191597824	chr12:62394516-62394517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550087168	chr12:62394530-62394531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185309765	chr12:62394544-62394545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538957256	chr12:62394558-62394559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552787848	chr12:62394627-62394628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188631303	chr12:62394671-62394672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534663028	chr12:62394687-62394688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193151380	chr12:62394699-62394700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368409649	chr12:62394717-62394718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554664183	chr12:62394742-62394743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574570689	chr12:62394745-62394746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185711629	chr12:62394748-62394749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372013379	chr12:62394756-62394757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143466011	chr12:62394758-62394759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576332747	chr12:62394836-62394837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146264698	chr12:62394866-62394867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189316892	chr12:62394876-62394877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572088375	chr12:62394956-62394957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541000232	chr12:62395010-62395011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139414951	chr12:62395013-62395014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551000943	chr12:62395186-62395187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143544762	chr12:62395251-62395252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151258924	chr12:62395262-62395263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563731100	chr12:62395329-62395330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532696349	chr12:62395335-62395336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552609163	chr12:62395350-62395351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59936004	chr12:62395387-62395388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140498053	chr12:62395393-62395394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565716835	chr12:62395406-62395407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75452909	chr12:62395407-62395408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115727698	chr12:62395428-62395429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116171794	chr12:62395429-62395430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537145723	chr12:62395439-62395440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	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
Metanephric adenoma	20802469	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
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	20369283	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62392600-62394200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:62393400-62396600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:62393600-62396600	Weak transcription	Primary monocytes fromperipheralblood	blood

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