Variant report

Variant	esv3481730
Chromosome Location	chr12:1028559-1029578
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: 55 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140474396	chr12:1028566-1028567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529700894	chr12:1028570-1028571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs528201989	chr12:1028581-1028582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548348397	chr12:1028601-1028602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541230281	chr12:1028611-1028612	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs184927432	chr12:1028679-1028680	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527349869	chr12:1028682-1028683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530306512	chr12:1028689-1028690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548897918	chr12:1028714-1028715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187736823	chr12:1028716-1028717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530861378	chr12:1028732-1028733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552157491	chr12:1028744-1028745	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570572526	chr12:1028745-1028746	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373637816	chr12:1028750-1028751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192324762	chr12:1028751-1028752	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367654635	chr12:1028762-1028763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544696088	chr12:1028781-1028782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150405055	chr12:1028789-1028790	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111359153	chr12:1028796-1028797	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12423292	chr12:1028824-1028825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71449114	chr12:1028831-1028832	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575610513	chr12:1028833-1028834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185281980	chr12:1028834-1028835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189711952	chr12:1028841-1028842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181426791	chr12:1028842-1028843	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71441629	chr12:1028854-1028855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540350747	chr12:1028881-1028882	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184628647	chr12:1028979-1028980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs530359522	chr12:1028984-1028985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188157905	chr12:1028993-1028994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146110744	chr12:1029000-1029001	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs180695177	chr12:1029013-1029014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186423673	chr12:1029015-1029016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552120576	chr12:1029060-1029061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376086818	chr12:1029143-1029144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs570535262	chr12:1029164-1029165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138861130	chr12:1029178-1029179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12296544	chr12:1029240-1029241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568943193	chr12:1029249-1029250	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568156335	chr12:1029254-1029255	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536233336	chr12:1029263-1029264	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554686975	chr12:1029265-1029266	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573003351	chr12:1029270-1029271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533995544	chr12:1029275-1029276	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558731040	chr12:1029276-1029277	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576932345	chr12:1029289-1029290	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11064591	chr12:1029362-1029363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
48	rs550803115	chr12:1029375-1029376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569137455	chr12:1029406-1029407	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10849586	chr12:1029465-1029466	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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:143 , 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	chr12:987000-1028800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:987000-1041200	Strong transcription	Fetal Intestine Large	intestine
5	chr12:988600-1029400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr12:989200-1042200	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:1004400-1041200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:1004800-1037400	Strong transcription	Fetal Lung	lung
9	chr12:1005200-1028800	Strong transcription	Rectal Smooth Muscle	rectum
10	chr12:1008200-1028800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:1015200-1029200	Strong transcription	Brain Anterior Caudate	brain
12	chr12:1015200-1038800	Weak transcription	Fetal Brain Male	brain
13	chr12:1015600-1030800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:1015800-1028600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:1020800-1054600	Strong transcription	Fetal Intestine Small	intestine
16	chr12:1021600-1033800	Weak transcription	Fetal Heart	heart
17	chr12:1021800-1028600	Strong transcription	Lung	lung
18	chr12:1023200-1038800	Weak transcription	Psoas Muscle	Psoas
19	chr12:1023600-1028800	Strong transcription	HSMM	muscle
20	chr12:1023800-1029200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:1023800-1029400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:1023800-1041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:1024000-1028800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:1024400-1033800	Weak transcription	NH-A	brain
25	chr12:1024600-1029200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:1024600-1030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:1024600-1031800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr12:1024600-1055800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:1024800-1028600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:1024800-1029400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:1024800-1033800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:1024800-1038000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:1024800-1038600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:1024800-1042200	Strong transcription	Fetal Thymus	thymus
35	chr12:1024800-1042200	Strong transcription	Dnd41	blood
36	chr12:1024800-1043200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:1024800-1057400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:1025200-1028800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:1026000-1032400	Weak transcription	Aorta	Aorta
40	chr12:1026000-1042200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:1026200-1043200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr12:1026400-1030000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:1026400-1032400	Weak transcription	Small Intestine	intestine
44	chr12:1026400-1033000	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:1026400-1033600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:1026400-1033600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:1026400-1033800	Weak transcription	Hela-S3	cervix
48	chr12:1026400-1042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:1026400-1042400	Strong transcription	Fetal Stomach	stomach
50	chr12:1026400-1042600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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