Variant report

Variant	esv2762995
Chromosome Location	chr12:85206182-85209659
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	chr12:85207233..85209066-chr12:85209280..85211825,2	K562	blood:
2	chr12:85207233..85209066-chr12:85209280..85211825,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7958607	chr12:85206199-85206200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183065308	chr12:85206246-85206247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139733948	chr12:85206298-85206299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7958726	chr12:85206302-85206303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58814511	chr12:85206444-85206445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142818260	chr12:85206476-85206477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151043371	chr12:85206504-85206505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139683384	chr12:85206522-85206523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34618495	chr12:85206559-85206560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35785744	chr12:85206560-85206561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562595658	chr12:85206589-85206590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533162098	chr12:85206633-85206634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186991648	chr12:85206639-85206640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551253472	chr12:85206665-85206666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11836329	chr12:85206666-85206667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534821987	chr12:85206672-85206673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546676260	chr12:85206680-85206681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535427165	chr12:85206708-85206709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568158846	chr12:85206709-85206710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535479560	chr12:85206720-85206721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557635702	chr12:85206749-85206750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10779136	chr12:85206759-85206760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540037349	chr12:85206778-85206779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541136009	chr12:85206822-85206823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558038373	chr12:85206830-85206831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573452503	chr12:85206833-85206834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71450989	chr12:85206858-85206859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540363556	chr12:85206863-85206864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555492054	chr12:85206926-85206927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573725487	chr12:85206966-85206967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557273060	chr12:85206977-85206978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191934053	chr12:85207018-85207019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562817854	chr12:85207064-85207065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533050579	chr12:85207069-85207070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545268845	chr12:85207119-85207120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573981208	chr12:85207170-85207171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527476171	chr12:85207171-85207172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546738258	chr12:85207188-85207189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149808829	chr12:85207193-85207194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182534453	chr12:85207194-85207195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550663808	chr12:85207261-85207262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146814296	chr12:85207286-85207287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553636345	chr12:85207325-85207326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201799257	chr12:85207426-85207427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187995417	chr12:85207470-85207471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570445780	chr12:85207505-85207506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576977185	chr12:85207532-85207533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57039379	chr12:85207577-85207578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145753998	chr12:85207664-85207665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551342247	chr12:85207680-85207681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85201400-85208200	Weak transcription	NH-A	brain
2	chr12:85201800-85208400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:85205400-85207600	Weak transcription	NHDF-Ad	bronchial
4	chr12:85205600-85210800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:85207600-85209200	Enhancers	NHDF-Ad	bronchial
6	chr12:85207800-85208800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:85208000-85209000	Enhancers	HMEC	breast
8	chr12:85208200-85208400	Enhancers	NH-A	brain
9	chr12:85208400-85208800	Weak transcription	NH-A	brain
10	chr12:85208400-85209000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:85208400-85209000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:85208400-85209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:85208400-85209200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:85208800-85209000	Enhancers	NH-A	brain
15	chr12:85209000-85210600	Weak transcription	NH-A	brain
16	chr12:85209000-85211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:85209200-85210800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:85209200-85210800	Weak transcription	NHDF-Ad	bronchial
19	chr12:85209200-85211000	Weak transcription	Muscle Satellite Cultured Cells	--

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