Variant report

Variant	rs17019266
Chromosome Location	chr1:212713407-212713408
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212710028..212714179-chr1:212780419..212783788,4	K562	blood:
2	chr1:212712241..212714137-chr1:212784111..212786006,2	K562	blood:
3	chr1:212711364..212713948-chr1:212717078..212718667,2	K562	blood:
4	chr1:212713256..212715343-chr1:212729431..212731008,3	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1126526	1.00[CHB][hapmap]
rs12739715	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17019397	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17019510	1.00[CHB][hapmap]
rs2007776	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2456815	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3001261	1.00[ASN][1000 genomes]
rs35030678	1.00[ASN][1000 genomes]
rs492231	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs498564	1.00[ASN][1000 genomes]
rs536040	1.00[CHB][hapmap]
rs56085986	1.00[ASN][1000 genomes]
rs58148696	1.00[AMR][1000 genomes]
rs593750	1.00[ASN][1000 genomes]
rs641053	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs648577	1.00[ASN][1000 genomes]
rs6680374	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71646161	1.00[ASN][1000 genomes]
rs74138553	1.00[ASN][1000 genomes]
rs74138559	1.00[ASN][1000 genomes]
rs7530106	1.00[ASN][1000 genomes]
rs7549085	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7551910	1.00[ASN][1000 genomes]
rs9429888	1.00[CHB][hapmap]

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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
6	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	nsv428588	chr1:212705588-212862875	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212712600-212714600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr1:212712800-212714200	Enhancers	Brain Cingulate Gyrus	brain
3	chr1:212712800-212714400	Enhancers	Brain Substantia Nigra	brain
4	chr1:212712800-212715400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:212713200-212714200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:212713200-212714200	Enhancers	Brain Angular Gyrus	brain
7	chr1:212713200-212714200	Enhancers	Brain Anterior Caudate	brain
8	chr1:212713200-212714400	Enhancers	HSMMtube	muscle
9	chr1:212713400-212714000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:212713400-212714000	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:212713400-212714000	Enhancers	HSMM	muscle

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