Variant report

Variant	esv3448588
Chromosome Location	chr12:118664219-118666267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561102146	chr12:118664247-118664248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542433903	chr12:118664303-118664304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562415539	chr12:118664313-118664314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377765808	chr12:118664317-118664318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140746961	chr12:118664337-118664338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76226572	chr12:118664356-118664357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61945185	chr12:118664359-118664360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550574889	chr12:118664381-118664382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575719133	chr12:118664472-118664473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16948189	chr12:118664522-118664523	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532752774	chr12:118664526-118664527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546316465	chr12:118664560-118664561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544846481	chr12:118664567-118664568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535304505	chr12:118664614-118664615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61945186	chr12:118664623-118664624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34222364	chr12:118664654-118664655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189856989	chr12:118664657-118664658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569136004	chr12:118664664-118664665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537720754	chr12:118664708-118664709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs207473427	chr12:118664749-118664750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537766429	chr12:118664776-118664777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546217254	chr12:118664793-118664794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17586463	chr12:118664823-118664824	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112540973	chr12:118664841-118664842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1277175	chr12:118664855-118664856	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562116486	chr12:118664900-118664901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16948193	chr12:118664920-118664921	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370578284	chr12:118664973-118664974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2668264	chr12:118664977-118664978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564777621	chr12:118664995-118664996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201066796	chr12:118665071-118665072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146436683	chr12:118665075-118665076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1092854	chr12:118665184-118665185	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559822696	chr12:118665222-118665223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528909335	chr12:118665506-118665507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549182234	chr12:118665538-118665539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551359531	chr12:118665641-118665642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199644036	chr12:118665730-118665731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182267261	chr12:118665741-118665742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565933417	chr12:118665855-118665856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538027801	chr12:118665856-118665857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551435233	chr12:118665900-118665901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138921175	chr12:118665940-118665941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539852337	chr12:118665942-118665943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376705017	chr12:118665953-118665954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369936605	chr12:118666006-118666007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371324877	chr12:118666039-118666040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553356695	chr12:118666042-118666043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536177951	chr12:118666132-118666133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573399233	chr12:118666154-118666155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:118628800-118673000	Weak transcription	NH-A	brain
5	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
11	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
13	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
14	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
15	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:118638800-118687800	Weak transcription	Gastric	stomach
17	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
18	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
19	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
20	chr12:118639400-118674800	Weak transcription	HMEC	breast
21	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:118643000-118672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:118644200-118665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:118644800-118666400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118647800-118666400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:118648000-118666400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:118648400-118664400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:118649800-118666600	Weak transcription	Thymus	Thymus
29	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
30	chr12:118650600-118671400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:118650600-118672400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
33	chr12:118650800-118672200	Weak transcription	HSMM	muscle
34	chr12:118651800-118672200	Weak transcription	Lung	lung
35	chr12:118651800-118672400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:118652000-118666400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:118652000-118666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:118652000-118666600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:118652000-118672200	Weak transcription	Fetal Thymus	thymus
40	chr12:118652000-118672600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:118652000-118673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:118652200-118664400	Weak transcription	NHEK	skin
43	chr12:118652200-118666400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:118652200-118666400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:118652200-118666600	Weak transcription	Fetal Lung	lung
46	chr12:118652200-118666600	Weak transcription	Osteobl	bone
47	chr12:118652200-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:118652200-118727800	Weak transcription	NHLF	lung
49	chr12:118652400-118666400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:118654000-118674000	Strong transcription	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links