Variant report

Variant	esv3378756
Chromosome Location	chr12:75826535-75828383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75784603..75786592-chr12:75825356..75827246,2	MCF-7	breast:
2	chr12:75784303..75786062-chr12:75827717..75830156,2	MCF-7	breast:
3	chr12:75818292..75820520-chr12:75824986..75827392,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180881	chromatin interactions
ENSG00000180481	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537712123	chr12:75826537-75826538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs556932973	chr12:75826538-75826539	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184458562	chr12:75826559-75826560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12313358	chr12:75826599-75826600	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs576654403	chr12:75826612-75826613	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189527220	chr12:75826657-75826658	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148087232	chr12:75826661-75826662	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143804153	chr12:75826721-75826722	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs193003824	chr12:75826724-75826725	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562927738	chr12:75826776-75826777	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs184775532	chr12:75826783-75826784	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542513690	chr12:75826841-75826842	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149684610	chr12:75826858-75826859	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562067470	chr12:75826874-75826875	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189289813	chr12:75826897-75826898	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11180509	chr12:75826929-75826930	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs570950620	chr12:75826930-75826931	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11180510	chr12:75826948-75826949	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs78730571	chr12:75826980-75826981	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568928374	chr12:75827017-75827018	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537749146	chr12:75827047-75827048	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs180921109	chr12:75827065-75827066	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568002958	chr12:75827092-75827093	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs137947941	chr12:75827187-75827188	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs386764351	chr12:75827191-75827192	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149171397	chr12:75827193-75827194	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186336374	chr12:75827210-75827211	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73354209	chr12:75827211-75827212	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs71438898	chr12:75827251-75827252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189586675	chr12:75827267-75827268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140797312	chr12:75827283-75827284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201453595	chr12:75827290-75827291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561397556	chr12:75827295-75827296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374036570	chr12:75827320-75827321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35575314	chr12:75827337-75827338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs556739936	chr12:75827381-75827382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2102135	chr12:75827455-75827456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs542550339	chr12:75827478-75827479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562410492	chr12:75827511-75827512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4304827	chr12:75827536-75827537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4304828	chr12:75827607-75827608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181553049	chr12:75827647-75827648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563698212	chr12:75827683-75827684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564288264	chr12:75827689-75827690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111312687	chr12:75827719-75827720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs199743345	chr12:75827723-75827724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs33931188	chr12:75827728-75827729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs74421887	chr12:75827729-75827730	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs199757196	chr12:75827743-75827744	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs201348001	chr12:75827744-75827745	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75823400-75832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:75824600-75827200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:75824600-75831400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:75825000-75826600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:75825400-75826800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:75826400-75826600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:75826400-75826600	Enhancers	Brain Anterior Caudate	brain
8	chr12:75826400-75827200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:75826600-75827200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:75826600-75827400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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