Variant report

Variant	esv2470717
Chromosome Location	chr12:67536248-67537717
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	chr12:67525789..67527641-chr12:67533532..67536496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255976	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10748071	chr12:67536262-67536263	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187649411	chr12:67536304-67536305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371509920	chr12:67536342-67536343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545972595	chr12:67536343-67536344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs564380032	chr12:67536409-67536410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372519603	chr12:67536450-67536451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs149816471	chr12:67536458-67536459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377016654	chr12:67536471-67536472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534223266	chr12:67536488-67536489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190875877	chr12:67536502-67536503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529402171	chr12:67536504-67536505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60514798	chr12:67536544-67536545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547886317	chr12:67536559-67536560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566013508	chr12:67536583-67536584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1526832	chr12:67536659-67536660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543149622	chr12:67536660-67536661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551520650	chr12:67536713-67536714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570057064	chr12:67536742-67536743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537348043	chr12:67536752-67536753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555916924	chr12:67536754-67536755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568035733	chr12:67536781-67536782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145825431	chr12:67536794-67536795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1370408	chr12:67536861-67536862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148838480	chr12:67536878-67536879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539683151	chr12:67536910-67536911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143503511	chr12:67536926-67536927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146420501	chr12:67536949-67536950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543685648	chr12:67536977-67536978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183067737	chr12:67536994-67536995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574001108	chr12:67537006-67537007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140848324	chr12:67537027-67537028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529239101	chr12:67537039-67537040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559431039	chr12:67537046-67537047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187404106	chr12:67537051-67537052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576522568	chr12:67537093-67537094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551607235	chr12:67537135-67537136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563521882	chr12:67537171-67537172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531146904	chr12:67537179-67537180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190362017	chr12:67537192-67537193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567814308	chr12:67537289-67537290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7980881	chr12:67537312-67537313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144861260	chr12:67537355-67537356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565826099	chr12:67537364-67537365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539517014	chr12:67537367-67537368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375697790	chr12:67537386-67537387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117224378	chr12:67537395-67537396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564334256	chr12:67537445-67537446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536818054	chr12:67537452-67537453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555638373	chr12:67537471-67537472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75403581	chr12:67537475-67537476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Lung cancer	18438408	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
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Cancer	20164920	CNVD
Lung adenocarcinoma	17982442	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67531400-67539200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:67535600-67539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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