Variant report

Variant	esv3481763
Chromosome Location	chr12:1028873-1029712
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	chr12:1022033..1023631-chr12:1025919..1029696,3	K562	blood:

Variant related genes	Relation type
ENSG00000002016	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540350747	chr12:1028881-1028882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184628647	chr12:1028979-1028980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530359522	chr12:1028984-1028985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188157905	chr12:1028993-1028994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146110744	chr12:1029000-1029001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs180695177	chr12:1029013-1029014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186423673	chr12:1029015-1029016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552120576	chr12:1029060-1029061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376086818	chr12:1029143-1029144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570535262	chr12:1029164-1029165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138861130	chr12:1029178-1029179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12296544	chr12:1029240-1029241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568943193	chr12:1029249-1029250	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs568156335	chr12:1029254-1029255	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536233336	chr12:1029263-1029264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554686975	chr12:1029265-1029266	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573003351	chr12:1029270-1029271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533995544	chr12:1029275-1029276	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558731040	chr12:1029276-1029277	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576932345	chr12:1029289-1029290	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11064591	chr12:1029362-1029363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs550803115	chr12:1029375-1029376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569137455	chr12:1029406-1029407	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10849586	chr12:1029465-1029466	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10849587	chr12:1029475-1029476	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10849588	chr12:1029477-1029478	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562762772	chr12:1029488-1029489	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539764324	chr12:1029513-1029514	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs574532157	chr12:1029577-1029578	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370752584	chr12:1029585-1029586	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10849589	chr12:1029591-1029592	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12296707	chr12:1029596-1029597	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572830714	chr12:1029616-1029617	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533640990	chr12:1029678-1029679	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190877540	chr12:1029705-1029706	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Cancer	20164920	CNVD
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:964400-1042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:986200-1042200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
4	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
6	chr12:1004400-1041200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:1004800-1037400	Strong transcription	Fetal Lung	lung
8	chr12:1015200-1029200	Strong transcription	Brain Anterior Caudate	brain
9	chr12:1015200-1038800	Weak transcription	Fetal Brain Male	brain
10	chr12:1015600-1030800	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:1020800-1054600	Strong transcription	Fetal Intestine Small	intestine
12	chr12:1021600-1033800	Weak transcription	Fetal Heart	heart
13	chr12:1023200-1038800	Weak transcription	Psoas Muscle	Psoas
14	chr12:1023800-1029200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:1023800-1029400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:1023800-1041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:1024400-1033800	Weak transcription	NH-A	brain
18	chr12:1024600-1029200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:1024600-1030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:1024600-1031800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:1024600-1055800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:1024800-1029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:1024800-1033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:1024800-1038000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:1024800-1038600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:1024800-1042200	Strong transcription	Fetal Thymus	thymus
27	chr12:1024800-1042200	Strong transcription	Dnd41	blood
28	chr12:1024800-1043200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:1024800-1057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:1026000-1032400	Weak transcription	Aorta	Aorta
31	chr12:1026000-1042200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:1026200-1043200	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:1026400-1030000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:1026400-1032400	Weak transcription	Small Intestine	intestine
35	chr12:1026400-1033000	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:1026400-1033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:1026400-1033600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:1026400-1033800	Weak transcription	Hela-S3	cervix
39	chr12:1026400-1042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:1026400-1042400	Strong transcription	Fetal Stomach	stomach
41	chr12:1026400-1042600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:1026400-1048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:1026600-1029800	Weak transcription	HMEC	breast
44	chr12:1026600-1031600	Weak transcription	Fetal Brain Female	brain
45	chr12:1026600-1032200	Weak transcription	Left Ventricle	heart
46	chr12:1026600-1032400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:1026600-1033000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:1026600-1033400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:1026600-1033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:1026600-1033600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links