Variant report

Variant	rs17618743
Chromosome Location	chr3:21716873-21716874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11129014	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12491669	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12497214	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13100753	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1490159	0.89[ASN][1000 genomes]
rs1602241	0.81[EUR][1000 genomes]
rs17553820	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054942	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2054944	0.89[EUR][1000 genomes]
rs2878597	0.88[EUR][1000 genomes]
rs35020519	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35390603	0.88[ASN][1000 genomes]
rs4488861	0.85[EUR][1000 genomes]
rs4858342	0.80[EUR][1000 genomes]
rs4858343	0.82[EUR][1000 genomes]
rs4858344	0.81[EUR][1000 genomes]
rs4858345	0.80[EUR][1000 genomes]
rs62237451	0.81[EUR][1000 genomes]
rs6781058	0.83[EUR][1000 genomes]
rs6787257	0.82[EUR][1000 genomes]
rs6790087	0.81[EUR][1000 genomes]
rs7612616	0.81[EUR][1000 genomes]
rs7628221	0.81[EUR][1000 genomes]
rs7644742	0.87[EUR][1000 genomes]
rs7644851	0.87[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	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv527771	chr3:21716235-21726363	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21707400-21719600	Weak transcription	Fetal Lung	lung
2	chr3:21707800-21719800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:21708200-21719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:21710000-21719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
6	chr3:21711200-21719600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:21712400-21717400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:21714200-21719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:21715000-21718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:21715000-21718400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas
12	chr3:21715800-21717400	Weak transcription	Aorta	Aorta

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