Variant report

Variant	nsv973951
Chromosome Location	chr12:72914700-72918454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535227461	chr12:72914714-72914715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553613696	chr12:72914754-72914755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567242495	chr12:72914761-72914762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553629722	chr12:72914787-72914788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578021972	chr12:72914796-72914797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117398304	chr12:72914797-72914798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374181131	chr12:72914810-72914811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7295506	chr12:72914831-72914832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575682889	chr12:72914857-72914858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147237632	chr12:72914874-72914875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542653748	chr12:72914902-72914903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148299496	chr12:72914903-72914904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183491444	chr12:72914914-72914915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74103377	chr12:72914979-72914980	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs374244716	chr12:72915020-72915021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532079654	chr12:72915032-72915033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115093012	chr12:72915106-72915107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544425021	chr12:72915119-72915120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562302118	chr12:72915123-72915124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529680236	chr12:72915153-72915154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560984232	chr12:72915158-72915159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377248912	chr12:72915163-72915164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548253858	chr12:72915178-72915179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567938496	chr12:72915196-72915197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187456349	chr12:72915204-72915205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547181080	chr12:72915217-72915218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73146948	chr12:72915224-72915225	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192597133	chr12:72915238-72915239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183366967	chr12:72915269-72915270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186957857	chr12:72915300-72915301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78697325	chr12:72915308-72915309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116721768	chr12:72915344-72915345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572769084	chr12:72915346-72915347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117821333	chr12:72915366-72915367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192366339	chr12:72915424-72915425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576974918	chr12:72915442-72915443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544115892	chr12:72915448-72915449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1817885	chr12:72915452-72915453	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184270593	chr12:72915453-72915454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541829569	chr12:72915470-72915471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17111281	chr12:72915507-72915508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs528749201	chr12:72915522-72915523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547327606	chr12:72915529-72915530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549832651	chr12:72915566-72915567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529570448	chr12:72915583-72915584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189673126	chr12:72915588-72915589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141446563	chr12:72915604-72915605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78501432	chr12:72915631-72915632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536365131	chr12:72915644-72915645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112782486	chr12:72915660-72915661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Cancer	20164920	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72906000-72917200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:72914600-72915200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:72914600-72915400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:72915000-72915400	Enhancers	Pancreas	Pancrea
5	chr12:72915000-72916600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:72915000-72918000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:72915200-72915600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:72915200-72916000	Enhancers	Adipose Nuclei	Adipose
9	chr12:72916000-72917400	Weak transcription	Adipose Nuclei	Adipose
10	chr12:72916400-72917000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:72916600-72916800	Enhancers	Ovary	ovary
12	chr12:72916600-72917400	Enhancers	Primary B cells from cord blood	blood
13	chr12:72916800-72917200	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:72916800-72917800	Weak transcription	Ovary	ovary
15	chr12:72917200-72917600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:72917200-72918200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:72917400-72917800	Enhancers	Adipose Nuclei	Adipose
18	chr12:72917400-72917800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:72917400-72918000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr12:72917600-72920400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:72917800-72918600	Enhancers	Ovary	ovary
22	chr12:72918000-72918600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:72918000-72918600	Enhancers	Primary B cells from cord blood	blood
24	chr12:72918400-72918600	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links