Variant report

Variant	esv3338681
Chromosome Location	chr12:12473885-12478083
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 173 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531878273	chr12:12473888-12473889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181658459	chr12:12473906-12473907	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541366002	chr12:12473947-12473948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371326439	chr12:12473958-12473959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533196403	chr12:12473968-12473969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186313003	chr12:12473997-12473998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs7313007	chr12:12474003-12474004	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150410677	chr12:12474006-12474007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549356461	chr12:12474020-12474021	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189441298	chr12:12474036-12474037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535003212	chr12:12474056-12474057	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182340962	chr12:12474059-12474060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571730198	chr12:12474061-12474062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7301300	chr12:12474072-12474073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112686178	chr12:12474095-12474096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75293707	chr12:12474096-12474097	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569373875	chr12:12474104-12474105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7301410	chr12:12474126-12474127	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138207211	chr12:12474153-12474154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573625023	chr12:12474184-12474185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs186006067	chr12:12474197-12474198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73277434	chr12:12474245-12474246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75220278	chr12:12474301-12474302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190923818	chr12:12474302-12474303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142824551	chr12:12474323-12474324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570526299	chr12:12474346-12474347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530978919	chr12:12474397-12474398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145054839	chr12:12474437-12474438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561114158	chr12:12474485-12474486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374047569	chr12:12474515-12474516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35832699	chr12:12474570-12474571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183140157	chr12:12474575-12474576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568526723	chr12:12474617-12474618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546953619	chr12:12474625-12474626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113284249	chr12:12474636-12474637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11054808	chr12:12474643-12474644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550718293	chr12:12474647-12474648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199509553	chr12:12474655-12474656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574430059	chr12:12474713-12474714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534167830	chr12:12474737-12474738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569157497	chr12:12474785-12474786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113707879	chr12:12474789-12474790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117773335	chr12:12474799-12474800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145614689	chr12:12474826-12474827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs137990307	chr12:12474843-12474844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557546207	chr12:12474855-12474856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373685330	chr12:12474856-12474857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75187466	chr12:12474859-12474860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375935526	chr12:12474868-12474869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369032431	chr12:12474870-12474871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	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	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12466000-12484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:12467000-12484400	Weak transcription	Small Intestine	intestine
3	chr12:12470600-12480800	Weak transcription	K562	blood
4	chr12:12472200-12474200	Enhancers	Fetal Intestine Large	intestine
5	chr12:12472200-12474200	Enhancers	Fetal Intestine Small	intestine
6	chr12:12472400-12474000	Enhancers	Pancreas	Pancrea
7	chr12:12472800-12474200	Flanking Active TSS	HepG2	liver
8	chr12:12472800-12476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:12472800-12480400	Weak transcription	Brain Angular Gyrus	brain
10	chr12:12473000-12474000	Weak transcription	Brain Substantia Nigra	brain
11	chr12:12473000-12482800	Weak transcription	Gastric	stomach
12	chr12:12473000-12483000	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:12473200-12474000	Enhancers	Placenta	Placenta
14	chr12:12473200-12485200	Weak transcription	HSMMtube	muscle
15	chr12:12473200-12501600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:12473400-12474000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:12473400-12474000	Enhancers	Colon Smooth Muscle	Colon
18	chr12:12473400-12474000	Enhancers	Stomach Mucosa	stomach
19	chr12:12473400-12474400	Enhancers	Liver	Liver
20	chr12:12473400-12475400	Weak transcription	Hela-S3	cervix
21	chr12:12473400-12475800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:12473400-12483000	Weak transcription	Aorta	Aorta
23	chr12:12473400-12484200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:12473600-12474000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:12473600-12474000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:12473600-12474000	Enhancers	Fetal Muscle Leg	muscle
27	chr12:12473600-12474200	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:12473600-12474400	Enhancers	Fetal Stomach	stomach
29	chr12:12473600-12476200	Weak transcription	Osteobl	bone
30	chr12:12473600-12482600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:12473600-12485200	Weak transcription	NH-A	brain
32	chr12:12473600-12493200	Weak transcription	Fetal Brain Female	brain
33	chr12:12473600-12502000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:12473800-12474000	Enhancers	Fetal Kidney	kidney
35	chr12:12473800-12474000	Enhancers	Ovary	ovary
36	chr12:12473800-12474000	Enhancers	A549	lung
37	chr12:12473800-12474200	Enhancers	Fetal Lung	lung
38	chr12:12473800-12475600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:12473800-12475800	Weak transcription	HSMM	muscle
40	chr12:12473800-12476200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:12473800-12476400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:12473800-12476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:12473800-12476600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:12473800-12483000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:12473800-12483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:12473800-12484600	Weak transcription	Lung	lung
47	chr12:12473800-12486200	Weak transcription	Colonic Mucosa	Colon
48	chr12:12473800-12487600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:12473800-12491800	Weak transcription	Left Ventricle	heart
50	chr12:12473800-12502400	Weak transcription	NHLF	lung

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