Variant report

Variant	rs17014323
Chromosome Location	chr1:209513852-209513853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209512114..209513913-chr1:209517327..209518870,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1006316	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1006317	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10494920	0.85[AMR][1000 genomes]
rs10494921	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1354850	0.89[ASN][1000 genomes]
rs1354852	0.89[ASN][1000 genomes]
rs1354853	0.89[ASN][1000 genomes]
rs1395753	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1507331	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1507336	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014320	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17014337	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17014370	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17014375	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014395	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014396	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4844473	0.91[ASN][1000 genomes]
rs4844807	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4844809	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4844815	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4844820	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4844821	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55684110	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58017268	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60460414	0.87[ASN][1000 genomes]
rs60534728	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6674793	0.89[ASN][1000 genomes]
rs6680924	0.80[AMR][1000 genomes]
rs6681466	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74155473	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516864	0.87[ASN][1000 genomes]
rs7548184	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209515600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:209513000-209516800	Enhancers	Fetal Lung	lung
4	chr1:209513000-209517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:209513000-209518600	Enhancers	Fetal Brain Male	brain
6	chr1:209513600-209514400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:209513600-209516000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:209513600-209517600	Enhancers	Fetal Brain Female	brain
9	chr1:209513800-209516200	Enhancers	Fetal Stomach	stomach

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