Variant report

Variant	esv2427493
Chromosome Location	chr12:1339760-1341285
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	chr12:1335548..1337986-chr12:1340753..1343719,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560873448	chr12:1339760-1339761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372383883	chr12:1339776-1339777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540285100	chr12:1339850-1339851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559999806	chr12:1339901-1339902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530311719	chr12:1339930-1339931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548925506	chr12:1340012-1340013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570234727	chr12:1340020-1340021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149802118	chr12:1340087-1340088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145752441	chr12:1340092-1340093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148520868	chr12:1340141-1340142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142788844	chr12:1340148-1340149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61911974	chr12:1340164-1340165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112019141	chr12:1340216-1340217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60323949	chr12:1340312-1340313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553039530	chr12:1340350-1340351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567962194	chr12:1340372-1340373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531980632	chr12:1340387-1340388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187514543	chr12:1340396-1340397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557258203	chr12:1340411-1340412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575466814	chr12:1340437-1340438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192134673	chr12:1340445-1340446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557474422	chr12:1340475-1340476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572759993	chr12:1340481-1340482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540373839	chr12:1340518-1340519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61203801	chr12:1340547-1340548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575119085	chr12:1340567-1340568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577400682	chr12:1340622-1340623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35783439	chr12:1340623-1340624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554230069	chr12:1340650-1340651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184189442	chr12:1340663-1340664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189943481	chr12:1340671-1340672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371122560	chr12:1340713-1340714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563877573	chr12:1340717-1340718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537959051	chr12:1340754-1340755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115940045	chr12:1340770-1340771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552796072	chr12:1340834-1340835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs377501688	chr12:1340838-1340839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564363672	chr12:1340850-1340851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78130971	chr12:1340853-1340854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549716340	chr12:1340854-1340855	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs57990987	chr12:1340922-1340923	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376737053	chr12:1340929-1340930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374666660	chr12:1340936-1340937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568201359	chr12:1340937-1340938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535884246	chr12:1340965-1340966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs60257878	chr12:1340998-1340999	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181161694	chr12:1341045-1341046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568988696	chr12:1341047-1341048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539364069	chr12:1341050-1341051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558026584	chr12:1341063-1341064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1314600-1346200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:1315000-1341200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:1315000-1345800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:1315400-1345800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:1316800-1366200	Weak transcription	Primary B cells from cord blood	blood
6	chr12:1326200-1346800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:1327000-1340800	Weak transcription	Fetal Intestine Small	intestine
8	chr12:1327200-1346000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:1327200-1346000	Weak transcription	NHDF-Ad	bronchial
10	chr12:1327200-1391200	Weak transcription	Aorta	Aorta
11	chr12:1327400-1345800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:1327400-1346000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:1327600-1342800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:1327600-1345800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:1327600-1345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:1327600-1346200	Weak transcription	HMEC	breast
17	chr12:1327600-1352400	Weak transcription	HSMM	muscle
18	chr12:1327600-1354200	Weak transcription	Osteobl	bone
19	chr12:1327800-1348400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:1328000-1346000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:1328000-1359200	Weak transcription	HUVEC	blood vessel
22	chr12:1328600-1346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:1329200-1345800	Weak transcription	Left Ventricle	heart
24	chr12:1329200-1366200	Weak transcription	Lung	lung
25	chr12:1329800-1346000	Weak transcription	Fetal Brain Female	brain
26	chr12:1330200-1346600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:1330200-1348200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:1330200-1348200	Weak transcription	Fetal Stomach	stomach
29	chr12:1330200-1353800	Weak transcription	Pancreas	Pancrea
30	chr12:1330200-1358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:1330200-1390600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:1330200-1391400	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:1330400-1372200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:1330400-1373200	Weak transcription	Hela-S3	cervix
35	chr12:1330600-1346200	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:1330800-1341000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr12:1333000-1346400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:1334200-1425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:1334800-1346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:1335800-1352600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr12:1336000-1360400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:1336600-1345800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:1336800-1346200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr12:1337800-1347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:1338400-1345800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:1339400-1341200	Weak transcription	Ovary	ovary
47	chr12:1339600-1339800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:1339800-1358600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:1340200-1340400	Enhancers	Brain Anterior Caudate	brain
50	chr12:1340400-1346000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links