Variant report

Variant	rs17103450
Chromosome Location	chr1:80099491-80099492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:80098711..80101528-chr1:80111688..80113709,2	K562	blood:
2	chr1:80091538..80094295-chr1:80099191..80102045,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12023367	1.00[AMR][1000 genomes]
rs12025658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12026767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12027888	1.00[AMR][1000 genomes]
rs12029642	1.00[AMR][1000 genomes]
rs12030013	1.00[AMR][1000 genomes]
rs12030299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12034665	1.00[AMR][1000 genomes]
rs12036905	1.00[AMR][1000 genomes]
rs12037641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12039867	1.00[AMR][1000 genomes]
rs12039923	1.00[AMR][1000 genomes]
rs12040121	1.00[AMR][1000 genomes]
rs12040237	1.00[AMR][1000 genomes]
rs12040880	1.00[AMR][1000 genomes]
rs12041108	1.00[AMR][1000 genomes]
rs12041732	1.00[AMR][1000 genomes]
rs12041849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12042159	1.00[AMR][1000 genomes]
rs12043955	1.00[AMR][1000 genomes]
rs12044515	1.00[AMR][1000 genomes]
rs12044901	1.00[AMR][1000 genomes]
rs12045663	1.00[AMR][1000 genomes]
rs12045991	1.00[AMR][1000 genomes]
rs12047490	1.00[AMR][1000 genomes]
rs17098662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17103209	1.00[AMR][1000 genomes]
rs17103224	1.00[AMR][1000 genomes]
rs17103273	1.00[AMR][1000 genomes]
rs17103305	1.00[AMR][1000 genomes]
rs2132054	1.00[AMR][1000 genomes]
rs7525048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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	nsv1012296	chr1:79945395-80300216	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1005022	chr1:79950774-80106902	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546637	chr1:79984748-80159969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv159019	chr1:80093561-80101313	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80098800-80099800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:80099000-80099600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:80099000-80099800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:80099400-80099600	Enhancers	NH-A	brain
5	chr1:80099400-80099800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:80099400-80099800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:80099400-80099800	Enhancers	NHDF-Ad	bronchial

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