Variant report

Variant	rs57957567
Chromosome Location	chr1:98484659-98484660
allele	C/T
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:53)

rs_ID	r²[population]
rs10735795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10747494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10875119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165918	1.00[AMR][1000 genomes]
rs11165926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117438	1.00[EUR][1000 genomes]
rs17117480	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17117486	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17117488	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17117490	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17117528	1.00[EUR][1000 genomes]
rs4269803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4304628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4348763	1.00[AMR][1000 genomes]
rs4351683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4592283	1.00[EUR][1000 genomes]
rs55989986	1.00[EUR][1000 genomes]
rs56996093	1.00[AMR][1000 genomes]
rs57429463	1.00[EUR][1000 genomes]
rs58211735	1.00[EUR][1000 genomes]
rs58260707	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58615096	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59429666	1.00[EUR][1000 genomes]
rs60366086	1.00[EUR][1000 genomes]
rs60945684	1.00[EUR][1000 genomes]
rs61234261	1.00[EUR][1000 genomes]
rs6604092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6604119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74105460	1.00[EUR][1000 genomes]
rs74106015	1.00[EUR][1000 genomes]
rs74106050	1.00[EUR][1000 genomes]
rs74106053	1.00[EUR][1000 genomes]
rs74106056	1.00[EUR][1000 genomes]
rs74106140	1.00[EUR][1000 genomes]
rs74107135	1.00[EUR][1000 genomes]
rs74107155	1.00[EUR][1000 genomes]
rs74107323	1.00[EUR][1000 genomes]
rs74107325	1.00[EUR][1000 genomes]
rs74107328	1.00[EUR][1000 genomes]
rs74107329	1.00[EUR][1000 genomes]
rs74108221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74108405	1.00[EUR][1000 genomes]
rs74108407	1.00[EUR][1000 genomes]
rs7511709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7511752	1.00[EUR][1000 genomes]
rs7520550	1.00[EUR][1000 genomes]
rs7545029	1.00[AMR][1000 genomes]
rs7553943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9324376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9324377	1.00[EUR][1000 genomes]
rs9661407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9727974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9729900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1009621	chr1:98435638-98599284	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv871230	chr1:98436232-98564736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv470729	chr1:98461443-98564736	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv546874	chr1:98461443-98564736	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98463800-98499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:98471600-98486600	Weak transcription	HSMM	muscle
3	chr1:98475200-98492400	Weak transcription	NHDF-Ad	bronchial
4	chr1:98482800-98485200	Weak transcription	Osteobl	bone

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