Variant report

Variant	rs9652299
Chromosome Location	chr14:79483119-79483120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10131645	0.92[ASN][1000 genomes]
rs10133874	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10135754	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10135769	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10139452	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10139460	0.86[EUR][1000 genomes]
rs10141996	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10142256	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10142652	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10146149	0.89[ASN][1000 genomes]
rs10146180	0.85[EUR][1000 genomes]
rs10146527	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10146542	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10147558	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10147940	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10148388	0.81[AMR][1000 genomes]
rs10150011	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10151590	0.86[EUR][1000 genomes]
rs11159391	0.92[EUR][1000 genomes]
rs11159392	0.89[EUR][1000 genomes]
rs11624311	0.91[ASN][1000 genomes]
rs11627905	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11627971	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11849134	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12147527	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12436277	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12586394	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12880287	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12882464	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1405474	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532728	0.90[EUR][1000 genomes]
rs1532729	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs154325	0.81[EUR][1000 genomes]
rs17108558	0.90[EUR][1000 genomes]
rs17108575	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1995411	0.82[EUR][1000 genomes]
rs2062740	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2062741	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2062744	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2202167	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2370895	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28831381	0.82[EUR][1000 genomes]
rs2887887	0.88[EUR][1000 genomes]
rs31406	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35916059	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4903811	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4903812	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4903825	0.80[AMR][1000 genomes]
rs61639937	0.86[EUR][1000 genomes]
rs7142308	0.88[EUR][1000 genomes]
rs7142821	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7150552	0.89[ASN][1000 genomes]
rs7157779	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72687406	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8008781	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8009329	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8009417	0.89[EUR][1000 genomes]
rs8011832	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8012099	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8014314	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8016232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016756	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8017018	0.87[EUR][1000 genomes]
rs8017027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872483	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs874316	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874317	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9323669	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323670	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1046464	chr14:79478352-79514789	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases
6	nsv1036542	chr14:79478352-79518230	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79477400-79483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:79477400-79483200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:79477600-79483600	Weak transcription	NHDF-Ad	bronchial
4	chr14:79478200-79485400	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:79478400-79485200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:79482200-79484000	Enhancers	A549	lung
7	chr14:79482200-79484200	Enhancers	HSMMtube	muscle
8	chr14:79482400-79483800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:79482400-79485800	Enhancers	Osteobl	bone
10	chr14:79482600-79486200	Enhancers	HSMM	muscle
11	chr14:79482600-79486200	Enhancers	NHLF	lung
12	chr14:79482800-79483800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:79482800-79484000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:79482800-79484000	Enhancers	HMEC	breast
15	chr14:79482800-79486000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:79482800-79486200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:79483000-79483200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:79483000-79483600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:79483000-79483600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:79483000-79483800	Enhancers	Fetal Muscle Leg	muscle
21	chr14:79483000-79483800	Enhancers	NHEK	skin
22	chr14:79483000-79484200	Enhancers	NH-A	brain

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