Variant report

Variant	rs73272054
Chromosome Location	chr12:42801324-42801325
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11385212	0.83[AMR][1000 genomes]
rs2639128	0.83[AMR][1000 genomes]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549495	0.83[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59321446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341977	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712128	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7303532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273948	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281868	0.83[AMR][1000 genomes]
rs73281890	0.83[AMR][1000 genomes]
rs73281897	0.83[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285664	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285666	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285678	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078990	1.00[AMR][1000 genomes]
rs7957401	0.83[AMR][1000 genomes]
rs7964994	0.83[AMR][1000 genomes]
rs9669751	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:42721800-42803600	Weak transcription	Gastric	stomach
4	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:42763800-42804200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
7	chr12:42770200-42815800	Weak transcription	Fetal Lung	lung
8	chr12:42770400-42816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:42771800-42803000	Weak transcription	Brain Anterior Caudate	brain
10	chr12:42777000-42802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:42780200-42802800	Weak transcription	Right Ventricle	heart
12	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:42780400-42804200	Weak transcription	K562	blood
14	chr12:42780400-42811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:42782000-42802000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:42782800-42803400	Weak transcription	Spleen	Spleen
17	chr12:42782800-42804200	Weak transcription	Fetal Brain Female	brain
18	chr12:42782800-42807200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:42783000-42836000	Weak transcription	Lung	lung
20	chr12:42785400-42836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:42789600-42812200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:42789600-42836200	Weak transcription	Pancreas	Pancrea
23	chr12:42790600-42802600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:42790600-42803800	Weak transcription	Colonic Mucosa	Colon
25	chr12:42793200-42802200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:42793200-42806800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:42793800-42802600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:42793800-42803400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:42794000-42802400	Weak transcription	HUVEC	blood vessel
31	chr12:42794400-42803800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:42794800-42804200	Weak transcription	Fetal Kidney	kidney
33	chr12:42795000-42813600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:42795400-42804000	Weak transcription	Placenta	Placenta
35	chr12:42795400-42834600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:42795600-42806000	Weak transcription	Primary T cells from cord blood	blood
37	chr12:42795600-42811400	Weak transcription	Adipose Nuclei	Adipose
38	chr12:42795600-42811800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:42795600-42820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:42795600-42820600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:42795600-42825800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:42795600-42834400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:42795800-42801400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:42795800-42821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:42795800-42836000	Weak transcription	Thymus	Thymus
46	chr12:42796000-42803200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:42796000-42803200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:42796000-42803800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:42796000-42804200	Weak transcription	Fetal Intestine Small	intestine
50	chr12:42796000-42805000	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links