Variant report

Variant	esv3425998
Chromosome Location	chr12:124271205-124273928
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	chr12:124267933..124270211-chr12:124272777..124275350,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192264853	chr12:124271218-124271219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150020475	chr12:124271228-124271229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371431177	chr12:124271229-124271230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374724659	chr12:124271230-124271231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145322406	chr12:124271237-124271238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113494161	chr12:124271358-124271359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184842235	chr12:124271394-124271395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189319126	chr12:124271413-124271414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572329512	chr12:124271521-124271522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375918026	chr12:124271531-124271532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181979725	chr12:124271593-124271594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564433162	chr12:124271617-124271618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183620279	chr12:124271792-124271793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35407480	chr12:124271853-124271854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36093389	chr12:124271873-124271874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559086076	chr12:124271879-124271880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557705238	chr12:124271894-124271895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543502469	chr12:124271900-124271901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562764789	chr12:124271916-124271917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146775974	chr12:124271933-124271934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200453123	chr12:124271943-124271944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377632212	chr12:124271946-124271947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12578963	chr12:124272002-124272003	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146745065	chr12:124272032-124272033	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548385220	chr12:124272046-124272047	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7962448	chr12:124272076-124272077	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140413050	chr12:124272116-124272117	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189505466	chr12:124272139-124272140	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570453522	chr12:124272173-124272174	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79099423	chr12:124272176-124272177	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549551429	chr12:124272183-124272184	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568397526	chr12:124272189-124272190	Bivalent/Poised TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535721515	chr12:124272208-124272209	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554061180	chr12:124272231-124272232	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572265702	chr12:124272241-124272242	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539648802	chr12:124272266-124272267	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558231333	chr12:124272283-124272284	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559230848	chr12:124272285-124272286	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576504798	chr12:124272296-124272297	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543786627	chr12:124272300-124272301	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371001710	chr12:124272307-124272308	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138266985	chr12:124272326-124272327	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542109616	chr12:124272337-124272338	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201134504	chr12:124272350-124272351	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560467277	chr12:124272366-124272367	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139225647	chr12:124272382-124272383	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552134248	chr12:124272413-124272414	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144145237	chr12:124272420-124272421	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146557304	chr12:124272436-124272437	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200629703	chr12:124272442-124272443	Bivalent/Poised TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124265800-124275200	Weak transcription	Fetal Brain Female	brain
2	chr12:124272000-124272200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:124272000-124273000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:124272200-124272800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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