Variant report

Variant	esv3359977
Chromosome Location	chr12:61163734-61195779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:61190167..61190689-chr8:43096069..43096590,2	MCF-7	breast:
2	chr12:61189187..61190689-chr8:43092929..43094431,2	MCF-7	breast:
3	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
4	chr12:61189187..61192169-chr8:43095061..43097452,4	MCF-7	breast:
5	chr1:188145515..188146513-chr12:61190169..61191167,2	MCF-7	breast:
6	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111323628	chr12:61190264-61190265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17617636	chr12:61190272-61190273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs575540553	chr12:61190294-61190295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180934660	chr12:61190329-61190330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73116836	chr12:61190347-61190348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533668070	chr12:61190405-61190406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550257359	chr12:61190438-61190439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74094207	chr12:61190463-61190464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553058024	chr12:61190473-61190474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185190895	chr12:61190475-61190476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560547318	chr12:61190506-61190507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574216931	chr12:61190507-61190508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568816110	chr12:61190546-61190547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369173273	chr12:61190547-61190548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573254415	chr12:61190571-61190572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550251821	chr12:61190579-61190580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541879258	chr12:61190587-61190588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563882890	chr12:61190588-61190589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540653635	chr12:61195026-61195027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111615971	chr12:61195049-61195050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555612063	chr12:61195086-61195087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138952933	chr12:61195088-61195089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538358593	chr12:61195107-61195108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372790105	chr12:61195119-61195120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577998747	chr12:61195145-61195146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35879199	chr12:61195160-61195161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540563818	chr12:61195174-61195175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570435321	chr12:61195201-61195202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149237712	chr12:61195238-61195239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573999567	chr12:61195251-61195252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56174739	chr12:61195330-61195331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377143223	chr12:61195363-61195364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117488195	chr12:61195421-61195422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186195760	chr12:61195436-61195437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139519286	chr12:61195451-61195452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533085224	chr12:61195467-61195468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78246379	chr12:61195492-61195493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189110828	chr12:61195494-61195495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546482042	chr12:61195502-61195503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79454472	chr12:61195516-61195517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566706994	chr12:61195548-61195549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12321112	chr12:61195570-61195571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs76932112	chr12:61195704-61195705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs58070904	chr12:61195770-61195771	Enhancers	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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61190200-61190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr12:61195000-61195800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr12:61195200-61195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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