Variant report

Variant	esv3351746
Chromosome Location	chr12:60788685-60793483
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	chr12:60790028..60792410-chr12:60842301..60844281,2	MCF-7	breast:

Extended variants
information (count: 143 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113118228	chr12:60788725-60788726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186279336	chr12:60788728-60788729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540970789	chr12:60788782-60788783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541831099	chr12:60788797-60788798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564098651	chr12:60788812-60788813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190602664	chr12:60788827-60788828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575331455	chr12:60788871-60788872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543951583	chr12:60788891-60788892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564321141	chr12:60788909-60788910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533152529	chr12:60788936-60788937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2731463	chr12:60788967-60788968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs560466910	chr12:60788995-60788996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2731464	chr12:60788996-60788997	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549376598	chr12:60789031-60789032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569132437	chr12:60789044-60789045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538380739	chr12:60789058-60789059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551448921	chr12:60789061-60789062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533195398	chr12:60789107-60789108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571365233	chr12:60789110-60789111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139570701	chr12:60789111-60789112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1504445	chr12:60789138-60789139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142772141	chr12:60789157-60789158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370003397	chr12:60789191-60789192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537076876	chr12:60789192-60789193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550936105	chr12:60789211-60789212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1504446	chr12:60789212-60789213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575129792	chr12:60789222-60789223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544365061	chr12:60789238-60789239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17123761	chr12:60789244-60789245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577767817	chr12:60789270-60789271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540457888	chr12:60789306-60789307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560059285	chr12:60789339-60789340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12306042	chr12:60789355-60789356	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549000666	chr12:60789393-60789394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562938752	chr12:60789396-60789397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531616703	chr12:60789402-60789403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1504447	chr12:60789454-60789455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183408140	chr12:60789457-60789458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571428700	chr12:60789507-60789508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17123769	chr12:60789542-60789543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547618290	chr12:60789572-60789573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2047909	chr12:60789586-60789587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537001065	chr12:60789605-60789606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112474203	chr12:60789607-60789608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191124437	chr12:60789608-60789609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1995514	chr12:60789609-60789610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554735333	chr12:60789612-60789613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139434630	chr12:60789628-60789629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577831114	chr12:60789665-60789666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540317742	chr12:60789668-60789669	Enhancers	n/a	n/a	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60785200-60788800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:60787800-60789400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:60787800-60789800	Enhancers	Hela-S3	cervix
4	chr12:60788000-60789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:60788000-60789200	Enhancers	NHDF-Ad	bronchial
6	chr12:60788000-60789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:60788000-60789600	Enhancers	HMEC	breast
8	chr12:60788000-60789800	Enhancers	NHEK	skin
9	chr12:60788200-60789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:60788200-60789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:60788400-60789400	Enhancers	HUVEC	blood vessel
12	chr12:60788400-60789600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:60788800-60789000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:60789800-60792200	Weak transcription	Hela-S3	cervix

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