Variant report

Variant	esv1803832
Chromosome Location	chr12:21966362-21972830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 277 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7956490	chr12:21966362-21966363	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565642173	chr12:21966408-21966409	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34467633	chr12:21966459-21966460	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557582768	chr12:21966470-21966471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2216525	chr12:21966509-21966510	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35341864	chr12:21966530-21966531	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568521456	chr12:21966599-21966600	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187627103	chr12:21966609-21966610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35563315	chr12:21966626-21966627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191900084	chr12:21966662-21966663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550321631	chr12:21966666-21966667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368135512	chr12:21966675-21966676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113796187	chr12:21966691-21966692	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4148679	chr12:21966701-21966702	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs183206676	chr12:21966776-21966777	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543369659	chr12:21966825-21966826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114611816	chr12:21966826-21966827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547738726	chr12:21966839-21966840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558230981	chr12:21966876-21966877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186067550	chr12:21966884-21966885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143517879	chr12:21966925-21966926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375075881	chr12:21966952-21966953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7307209	chr12:21966976-21966977	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574407813	chr12:21967000-21967001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543306342	chr12:21967045-21967046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113775042	chr12:21967057-21967058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528065262	chr12:21967110-21967111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112951607	chr12:21967111-21967112	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540106396	chr12:21967116-21967117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541270146	chr12:21967146-21967147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116841959	chr12:21967155-21967156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556375692	chr12:21967190-21967191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141721874	chr12:21967212-21967213	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200058602	chr12:21967283-21967284	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11046194	chr12:21967353-21967354	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150563694	chr12:21967401-21967402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112846331	chr12:21967407-21967408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112918103	chr12:21967423-21967424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182689954	chr12:21967441-21967442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536178922	chr12:21967449-21967450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546852989	chr12:21967460-21967461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565989226	chr12:21967464-21967465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535009862	chr12:21967506-21967507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540590379	chr12:21967523-21967524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113882813	chr12:21967529-21967530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201129154	chr12:21967539-21967540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578145919	chr12:21967542-21967543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537511747	chr12:21967551-21967552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376991991	chr12:21967579-21967580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145005748	chr12:21967618-21967619	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	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	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21953400-21966800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:21953400-21971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:21953800-21981000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:21954200-21972200	Weak transcription	Fetal Kidney	kidney
5	chr12:21954400-21980600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:21955800-21971600	Weak transcription	Ovary	ovary
7	chr12:21955800-21973600	Weak transcription	Right Ventricle	heart
8	chr12:21956800-21968400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:21957200-21971200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:21958200-21968200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:21958200-21969200	Weak transcription	Left Ventricle	heart
12	chr12:21958200-21981200	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:21958400-21980000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:21958400-22003000	Weak transcription	Psoas Muscle	Psoas
15	chr12:21963800-21971800	Weak transcription	Fetal Lung	lung
16	chr12:21964400-21966600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:21965000-21971600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:21966000-21973000	Weak transcription	Gastric	stomach
19	chr12:21966200-21967200	Enhancers	Liver	Liver
20	chr12:21966200-21967400	Enhancers	Fetal Heart	heart
21	chr12:21966600-21967600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:21966800-21967800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr12:21967200-21967400	Flanking Active TSS	Liver	Liver
24	chr12:21967200-21967600	Enhancers	HepG2	liver
25	chr12:21967400-21967600	Enhancers	Liver	Liver
26	chr12:21967400-21971000	Weak transcription	Fetal Heart	heart
27	chr12:21967600-21967800	Flanking Active TSS	Liver	Liver
28	chr12:21967600-21968200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:21967600-21968400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:21967800-21968200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:21967800-21970400	Enhancers	Liver	Liver
32	chr12:21968200-21968800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:21968200-21968800	Enhancers	Adipose Nuclei	Adipose
34	chr12:21968200-21968800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr12:21968200-21969000	Enhancers	Osteobl	bone
36	chr12:21968400-21968800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:21968400-21968800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:21968400-21968800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:21968400-21968800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:21968400-21969000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:21968800-21970400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:21968800-21971600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:21968800-21971600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:21968800-21971800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr12:21968800-21972000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:21968800-21978800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:21968800-21978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:21969000-21971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:21969000-21971400	Weak transcription	Osteobl	bone
50	chr12:21969200-21969400	Genic enhancers	Left Ventricle	heart

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