Variant report

Variant	rs57028673
Chromosome Location	chr2:134543148-134543149
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13424416	1.00[EUR][1000 genomes]
rs16829423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs16829792	1.00[EUR][1000 genomes]
rs16829808	1.00[EUR][1000 genomes]
rs34979285	1.00[EUR][1000 genomes]
rs56170261	1.00[EUR][1000 genomes]
rs57898906	1.00[EUR][1000 genomes]
rs58799403	1.00[EUR][1000 genomes]
rs59471650	1.00[EUR][1000 genomes]
rs59601058	1.00[EUR][1000 genomes]
rs59785320	1.00[EUR][1000 genomes]
rs60573351	1.00[EUR][1000 genomes]
rs61290996	1.00[EUR][1000 genomes]
rs61465743	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6430445	1.00[EUR][1000 genomes]
rs6726548	1.00[EUR][1000 genomes]
rs6745294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753469	1.00[EUR][1000 genomes]
rs6757963	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999768	1.00[EUR][1000 genomes]
rs72999775	1.00[EUR][1000 genomes]
rs72999782	1.00[EUR][1000 genomes]
rs72999787	1.00[EUR][1000 genomes]
rs72999793	1.00[EUR][1000 genomes]
rs73003855	1.00[EUR][1000 genomes]
rs73003879	1.00[EUR][1000 genomes]
rs73003897	1.00[EUR][1000 genomes]
rs73003900	1.00[EUR][1000 genomes]
rs73005709	1.00[EUR][1000 genomes]
rs73005714	1.00[EUR][1000 genomes]
rs73005722	1.00[EUR][1000 genomes]
rs73005734	1.00[EUR][1000 genomes]
rs73007661	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957243	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73960110	1.00[EUR][1000 genomes]
rs7584447	1.00[EUR][1000 genomes]
rs7592843	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134535400-134544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134538200-134547600	Weak transcription	Fetal Heart	heart
3	chr2:134542600-134545800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:134542800-134544600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:134542800-134547600	Weak transcription	HUVEC	blood vessel

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