Variant report

Variant	rs709007
Chromosome Location	chr20:22203787-22203788
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	chr20:22202765..22204318-chr20:22217926..22219927,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX1-4	chr20:22203617-22203921	XLOC_013483

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1090292	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1090293	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1159466	0.97[ASN][1000 genomes]
rs200369	0.81[YRI][hapmap]
rs2876633	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs4815098	0.85[ASN][1000 genomes]
rs6082642	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6113583	0.84[ASN][1000 genomes]
rs6113585	0.85[ASN][1000 genomes]
rs6137582	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs709005	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709006	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804609	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804610	0.85[ASN][1000 genomes]
rs804612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs804614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804615	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804616	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs804617	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804618	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs804688	0.83[AMR][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	nsv1058137	chr20:21549350-22295051	Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1065067	chr20:22199617-22240462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 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	chr20:22202400-22203800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr20:22202400-22204200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr20:22202600-22203800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr20:22202600-22204000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:22202800-22203800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:22203400-22203800	Enhancers	Dnd41	blood
7	chr20:22203400-22204400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:22203400-22206000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr20:22203600-22204000	Weak transcription	Fetal Stomach	stomach

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