Variant report

Variant	rs12589453
Chromosome Location	chr14:64376864-64376865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11158520	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11850711	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12588807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878037	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12878348	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12879374	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12881942	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12882429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12888489	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12888712	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12891546	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12894963	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12896120	0.80[AMR][1000 genomes]
rs17751301	1.00[CEU][hapmap]
rs17824268	1.00[CEU][hapmap]
rs33976862	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34328391	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34556545	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34561759	0.83[ASN][1000 genomes]
rs35009554	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35168922	0.83[ASN][1000 genomes]
rs35302448	0.83[ASN][1000 genomes]
rs35581544	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35984502	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3818774	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4459477	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4899120	1.00[CHB][hapmap]
rs4902250	0.83[ASN][1000 genomes]
rs6573539	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66684280	0.83[ASN][1000 genomes]
rs67289344	0.83[ASN][1000 genomes]
rs71416319	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7401191	0.83[ASN][1000 genomes]
rs8015210	1.00[CEU][hapmap]
rs8023195	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64358200-64377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:64358800-64377600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:64360600-64382200	Weak transcription	Psoas Muscle	Psoas
5	chr14:64360800-64377800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:64364400-64385200	Weak transcription	Pancreas	Pancrea
7	chr14:64364600-64387800	Weak transcription	HMEC	breast
8	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
9	chr14:64365200-64386200	Weak transcription	Gastric	stomach
10	chr14:64365400-64379800	Weak transcription	Fetal Thymus	thymus
11	chr14:64365400-64393600	Weak transcription	Right Ventricle	heart
12	chr14:64367400-64378000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:64367800-64377400	Weak transcription	Primary B cells from cord blood	blood
14	chr14:64369600-64377600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:64369800-64386200	Weak transcription	Esophagus	oesophagus
16	chr14:64372200-64378000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:64374600-64377400	Weak transcription	Brain Germinal Matrix	brain
18	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:64375000-64377400	Weak transcription	Fetal Intestine Small	intestine
20	chr14:64375200-64385000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:64375400-64377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:64375400-64380000	Strong transcription	Dnd41	blood
25	chr14:64375600-64377000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:64375600-64377200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:64375600-64377400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:64375600-64377400	Weak transcription	Brain Angular Gyrus	brain
29	chr14:64375600-64381000	Weak transcription	NHEK	skin
30	chr14:64375800-64377200	Weak transcription	Brain Hippocampus Middle	brain
31	chr14:64375800-64377400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:64375800-64377400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:64375800-64377800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:64375800-64378000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:64375800-64378400	Weak transcription	Colonic Mucosa	Colon
36	chr14:64375800-64380800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:64375800-64381000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:64375800-64384000	Weak transcription	Fetal Intestine Large	intestine
39	chr14:64375800-64384800	Weak transcription	Fetal Kidney	kidney
40	chr14:64375800-64386200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:64375800-64388600	Weak transcription	Hela-S3	cervix
42	chr14:64375800-64389000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:64375800-64393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:64376000-64377000	Weak transcription	Osteobl	bone
45	chr14:64376000-64377200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr14:64376000-64377200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:64376000-64377200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr14:64376000-64377200	Weak transcription	Fetal Heart	heart
49	chr14:64376000-64377200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:64376000-64377400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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