Variant report

Variant	rs59383649
Chromosome Location	chr1:221803989-221803990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10082031	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10082119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10449312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11118769	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11118771	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12058091	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12060691	0.97[AFR][1000 genomes]
rs12063275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063464	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067974	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075242	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079769	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12081273	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12081326	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082182	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082815	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12082874	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12084065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086252	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12086291	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12088112	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12089796	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12092891	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12093053	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095828	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12095905	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13376358	0.88[EUR][1000 genomes]
rs17010395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010397	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17010463	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1973728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28515661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56971545	1.00[EUR][1000 genomes]
rs57255089	1.00[EUR][1000 genomes]
rs58173559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58482927	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59680640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59837278	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60152531	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60217573	1.00[EUR][1000 genomes]
rs61079406	1.00[EUR][1000 genomes]
rs61221236	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73117552	0.88[EUR][1000 genomes]
rs74145360	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145363	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145364	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145365	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145366	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145367	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145373	0.97[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs74145375	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74145376	0.98[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs74145378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74145394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74145400	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308402	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv13406	chr1:221803907-221805874	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221802600-221804600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:221803400-221804000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:221803400-221804400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:221803600-221804400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:221803800-221804400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:221803800-221804400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:221803800-221806000	Enhancers	Primary hematopoietic stem cells	blood

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