Variant report

Variant	rs229683
Chromosome Location	chr14:45247021-45247022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs170687	0.82[ASN][1000 genomes]
rs170689	0.82[ASN][1000 genomes]
rs170690	0.82[ASN][1000 genomes]
rs170691	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17115558	0.90[ASN][1000 genomes]
rs179349	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs184529	0.82[ASN][1000 genomes]
rs229684	0.98[ASN][1000 genomes]
rs229685	0.84[ASN][1000 genomes]
rs229686	0.84[ASN][1000 genomes]
rs229687	0.82[ASN][1000 genomes]
rs229688	0.84[ASN][1000 genomes]
rs229689	0.84[ASN][1000 genomes]
rs229690	0.84[ASN][1000 genomes]
rs229692	0.84[ASN][1000 genomes]
rs229693	0.84[ASN][1000 genomes]
rs229694	0.84[ASN][1000 genomes]
rs229695	0.82[ASN][1000 genomes]
rs229696	0.82[ASN][1000 genomes]
rs229698	0.87[ASN][1000 genomes]
rs229699	0.87[ASN][1000 genomes]
rs229700	0.87[ASN][1000 genomes]
rs229701	0.83[ASW][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs229702	0.94[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs229703	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs229704	0.80[ASN][1000 genomes]
rs229705	0.87[ASN][1000 genomes]
rs229706	0.82[ASN][1000 genomes]
rs229707	0.82[ASN][1000 genomes]
rs229708	0.82[ASN][1000 genomes]
rs229709	0.82[ASN][1000 genomes]
rs229710	0.82[ASN][1000 genomes]
rs229713	0.81[ASN][1000 genomes]
rs229714	0.81[ASN][1000 genomes]
rs229716	0.89[ASN][1000 genomes]
rs229719	0.84[ASN][1000 genomes]
rs229721	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs229743	0.86[ASN][1000 genomes]
rs371224	0.87[ASN][1000 genomes]
rs374976	0.84[ASN][1000 genomes]
rs390230	0.83[AFR][1000 genomes]
rs401737	0.84[ASN][1000 genomes]
rs452831	0.85[ASN][1000 genomes]
rs452832	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054134	chr14:44501865-45271806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv542074	chr14:44501865-45271806	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv901836	chr14:45054777-45283699	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2758356	chr14:45057833-45313666	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2759986	chr14:45057833-45313666	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv517384	chr14:45060617-45250418	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv901838	chr14:45069249-45297050	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1050829	chr14:45157388-45318232	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2757566	chr14:45169402-45254884	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
13	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
14	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
15	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
16	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45244600-45247400	Weak transcription	Fetal Lung	lung
2	chr14:45246200-45249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:45246800-45248400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:45247000-45247800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:45247000-45247800	Weak transcription	Fetal Stomach	stomach
6	chr14:45247000-45248000	Enhancers	Fetal Kidney	kidney

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