Variant report

Variant	rs804612
Chromosome Location	chr20:22198138-22198139
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	chr20:22197366..22199086-chr20:22218639..22220726,2	K562	blood:
2	chr20:22197179..22199086-chr20:22218639..22222093,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1090292	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1090293	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1159466	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2876633	0.82[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4815098	0.83[ASN][1000 genomes]
rs6082642	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6113583	0.85[ASN][1000 genomes]
rs6113585	0.83[ASN][1000 genomes]
rs6137582	0.82[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs709005	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs709006	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs709007	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs742655	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804609	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804610	0.86[ASN][1000 genomes]
rs804614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804615	0.82[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804616	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs804617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs804618	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs804612	HSPC072	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22197600-22198200	Enhancers	GM12878-XiMat	blood
2	chr20:22197600-22198400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:22197600-22198800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr20:22197600-22199000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr20:22197800-22198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:22197800-22198600	Enhancers	NHEK	skin
7	chr20:22197800-22198800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:22197800-22198800	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr20:22198000-22198400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr20:22198000-22198400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:22198000-22199000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:22198000-22199000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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