Variant report

Variant	esv2753824
Chromosome Location	chr12:119479046-119498236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:119488192..119491190-chr12:119493601..119496184,2	K562	blood:
2	chr10:32967551..32968071-chr12:119487893..119488413,2	MCF-7	breast:
3	chr12:119488192..119491190-chr12:119493601..119496184,2	K562	blood:

Extended variants
information (count: 718 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7306122	chr12:119479046-119479047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144415682	chr12:119479126-119479127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375068264	chr12:119479166-119479167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377215757	chr12:119479180-119479181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140893832	chr12:119479194-119479195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144856221	chr12:119479204-119479205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147513809	chr12:119479228-119479229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7137807	chr12:119479280-119479281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139945687	chr12:119479302-119479303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543916291	chr12:119479313-119479314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145454341	chr12:119479317-119479318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79063527	chr12:119479318-119479319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537578359	chr12:119479369-119479370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557461276	chr12:119479458-119479459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577170484	chr12:119479480-119479481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116050453	chr12:119479482-119479483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187721951	chr12:119479601-119479602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573524556	chr12:119479620-119479621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369595426	chr12:119479640-119479641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151026368	chr12:119479648-119479649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191351809	chr12:119479654-119479655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140960034	chr12:119479710-119479711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550284689	chr12:119479713-119479714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563794922	chr12:119479740-119479741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532801742	chr12:119479799-119479800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575032820	chr12:119479834-119479835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546616442	chr12:119479850-119479851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375809151	chr12:119479854-119479855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149744595	chr12:119479865-119479866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535771054	chr12:119479876-119479877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185005244	chr12:119479924-119479925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11615880	chr12:119479964-119479965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566121701	chr12:119480001-119480002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187765768	chr12:119480011-119480012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145654073	chr12:119480027-119480028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11613424	chr12:119480046-119480047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539545046	chr12:119480056-119480057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs68039230	chr12:119480130-119480131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534795792	chr12:119480137-119480138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140333196	chr12:119480164-119480165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552780983	chr12:119480175-119480176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542131129	chr12:119480190-119480191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562018766	chr12:119480212-119480213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192196698	chr12:119480213-119480214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4767761	chr12:119480296-119480297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs531832784	chr12:119480367-119480368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77016757	chr12:119480378-119480379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546356626	chr12:119480427-119480428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141765815	chr12:119480461-119480462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560130430	chr12:119480572-119480573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119474400-119479400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:119474800-119479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:119475000-119487800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:119475200-119505800	Weak transcription	Fetal Brain Female	brain
5	chr12:119477600-119493800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:119477800-119482800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:119479400-119480000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:119479600-119480000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:119482600-119483000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:119482800-119483000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:119487000-119492600	Weak transcription	Fetal Brain Male	brain
12	chr12:119487800-119489200	Strong transcription	Brain Germinal Matrix	brain
13	chr12:119489200-119497200	Weak transcription	Brain Germinal Matrix	brain
14	chr12:119492600-119493000	Enhancers	Fetal Brain Male	brain
15	chr12:119493000-119498800	Weak transcription	Fetal Brain Male	brain
16	chr12:119493600-119494400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:119496600-119496800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:119497000-119498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:119497200-119497600	Strong transcription	Brain Germinal Matrix	brain
20	chr12:119497600-119498800	Weak transcription	Brain Germinal Matrix	brain

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