Variant report

Variant	esv10137
Chromosome Location	chr12:25455511-25469350
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	chr12:25467024..25469449-chr12:25537927..25540191,2	K562	blood:

Extended variants
information (count: 537 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529853008	chr12:25455543-25455544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140267897	chr12:25455555-25455556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569643836	chr12:25455573-25455574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565611909	chr12:25455588-25455589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530700499	chr12:25455614-25455615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186924195	chr12:25455629-25455630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570758159	chr12:25455681-25455682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534972671	chr12:25455748-25455749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553515997	chr12:25455805-25455806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77814721	chr12:25455811-25455812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9943686	chr12:25455820-25455821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11047941	chr12:25455835-25455836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144106054	chr12:25455838-25455839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78905453	chr12:25455875-25455876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546173309	chr12:25455888-25455889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558382927	chr12:25455927-25455928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576771383	chr12:25455974-25455975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540589232	chr12:25456065-25456066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117090853	chr12:25456105-25456106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368757614	chr12:25456147-25456148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541657906	chr12:25456175-25456176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372076435	chr12:25456189-25456190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77727826	chr12:25456230-25456231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113150058	chr12:25456231-25456232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552193738	chr12:25456269-25456270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376412651	chr12:25456270-25456271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140900056	chr12:25456284-25456285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4257069	chr12:25456293-25456294	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9943697	chr12:25456346-25456347	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558917248	chr12:25456399-25456400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34831001	chr12:25456416-25456417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375576554	chr12:25456443-25456444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71274294	chr12:25456446-25456447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74593931	chr12:25456452-25456453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371535878	chr12:25456453-25456454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200335775	chr12:25456454-25456455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201574747	chr12:25456456-25456457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368086425	chr12:25456457-25456458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201577448	chr12:25456458-25456459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530127963	chr12:25456480-25456481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558181754	chr12:25456483-25456484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573454684	chr12:25456501-25456502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59307134	chr12:25456519-25456520	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552537373	chr12:25456688-25456689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191286880	chr12:25456689-25456690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4264235	chr12:25456697-25456698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541521127	chr12:25456698-25456699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563351635	chr12:25456716-25456717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575360480	chr12:25456738-25456739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545949229	chr12:25456754-25456755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	17133270	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25454400-25456200	Enhancers	Placenta	Placenta
2	chr12:25454600-25455600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:25455000-25456200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:25455600-25460200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:25456200-25456600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:25456600-25461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:25460200-25462600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:25460600-25461600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:25460600-25462200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:25461000-25461200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:25461000-25461200	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr12:25461000-25461600	Enhancers	Osteobl	bone
13	chr12:25461200-25461800	Enhancers	NHLF	lung
14	chr12:25461200-25462000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:25461200-25462000	Enhancers	NH-A	brain
16	chr12:25461200-25462200	Enhancers	NHDF-Ad	bronchial
17	chr12:25461400-25462000	Enhancers	Fetal Intestine Large	intestine
18	chr12:25461400-25462200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:25461400-25462200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:25461600-25464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:25462000-25462200	Enhancers	HMEC	breast
22	chr12:25462200-25464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:25462200-25464400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:25462200-25464600	Weak transcription	NHDF-Ad	bronchial
25	chr12:25462600-25464200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:25464000-25465000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:25464200-25464800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:25464400-25465000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:25464400-25465000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:25464600-25464800	Enhancers	NHDF-Ad	bronchial
31	chr12:25464800-25466400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:25465000-25465200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:25465000-25465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:25465000-25466200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:25465000-25466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:25465200-25466200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:25465400-25466000	Enhancers	NHEK	skin
38	chr12:25465800-25466000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:25465800-25466400	Enhancers	HMEC	breast
40	chr12:25465800-25466600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:25466200-25466800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:25466200-25467200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:25466200-25467200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:25466400-25466600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:25466400-25466600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:25467200-25470200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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