Variant report

Variant	rs397505
Chromosome Location	chr9:6076823-6076824
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	chr9:6074105..6076880-chr9:6078281..6080454,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10739084	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10975412	0.88[EUR][1000 genomes]
rs10975413	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10975416	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1330124	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1332292	0.85[EUR][1000 genomes]
rs1537285	0.85[EUR][1000 genomes]
rs1556470	0.85[EUR][1000 genomes]
rs1591044	0.85[EUR][1000 genomes]
rs168168	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1755531	0.85[EUR][1000 genomes]
rs189348	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1970089	0.85[EUR][1000 genomes]
rs2150969	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs340887	0.89[EUR][1000 genomes]
rs340893	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs340894	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340896	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs340901	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340902	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340903	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340904	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340905	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340906	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340918	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340919	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs340921	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340922	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340923	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340924	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340925	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340926	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340933	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs340934	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs340935	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs343475	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343476	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343479	0.90[EUR][1000 genomes]
rs343489	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343490	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343491	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343495	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343496	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs369996	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs371165	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs371454	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs372560	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs374672	0.85[EUR][1000 genomes]
rs375560	0.85[EUR][1000 genomes]
rs376690	0.85[EUR][1000 genomes]
rs378952	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs380568	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs380888	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs390158	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs393556	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs397916	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs398561	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs399834	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs401731	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs401834	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs420445	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs425489	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs437389	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs441616	0.85[EUR][1000 genomes]
rs442851	0.85[EUR][1000 genomes]
rs443175	0.85[EUR][1000 genomes]
rs451974	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs454664	0.89[ASN][1000 genomes]
rs503384	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs503507	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs531759	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62558390	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs639247	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs694796	0.85[EUR][1000 genomes]
rs695013	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs821164	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9407312	0.85[EUR][1000 genomes]
rs9408638	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs974936	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv613205	chr9:6032924-6332901	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv916394	chr9:6055497-6322471	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6068800-6079400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:6069600-6079600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:6073400-6079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:6073800-6079800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr9:6074200-6078400	Weak transcription	Hela-S3	cervix
6	chr9:6074600-6079800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:6075600-6078400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:6075600-6079800	Weak transcription	Stomach Mucosa	stomach
9	chr9:6076400-6077600	Enhancers	HMEC	breast
10	chr9:6076800-6077200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:6076800-6077400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:6076800-6077400	Enhancers	Osteobl	bone
13	chr9:6076800-6077600	Enhancers	NHEK	skin

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