Variant report

Variant	rs11909530
Chromosome Location	chr21:45042276-45042277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45042251..45044066-chr21:45077636..45080111,2	K562	blood:
2	chr21:44936721..44939320-chr21:45041699..45043482,2	MCF-7	breast:
3	chr21:45042013..45047933-chr21:45048516..45050903,5	K562	blood:
4	chr21:45040425..45043053-chr21:45064104..45066805,2	K562	blood:
5	chr21:44990660..44993041-chr21:45040691..45042481,2	K562	blood:

Variant related genes	Relation type
ENSG00000160207	Chromatin interaction
ENSG00000160208	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10427514	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs10483077	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10483078	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs11089065	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11089090	0.91[YRI][hapmap]
rs11908893	0.86[AFR][1000 genomes]
rs11908919	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909195	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909813	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909916	0.83[AMR][1000 genomes]
rs11909999	0.92[AMR][1000 genomes]
rs11910220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910351	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910352	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11911293	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11911483	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11911560	0.83[AFR][1000 genomes]
rs11911735	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911856	0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106371	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12106423	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12106466	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13339951	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004507	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004580	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004581	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004582	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004585	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004586	0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004587	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004588	0.86[AFR][1000 genomes]
rs17004589	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004590	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004592	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004593	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004594	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004595	0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004596	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs17004600	0.80[YRI][hapmap]
rs17004602	0.80[YRI][hapmap]
rs28431406	0.83[AMR][1000 genomes]
rs28782771	0.83[AMR][1000 genomes]
rs28852206	0.83[AMR][1000 genomes]
rs59298188	0.85[AMR][1000 genomes]
rs9917493	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr21:45032200-45059200	Weak transcription	Hela-S3	cervix
2	chr21:45040000-45048400	Weak transcription	Brain Germinal Matrix	brain
3	chr21:45041000-45051800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45041800-45043000	Enhancers	Dnd41	blood
5	chr21:45042000-45044000	Enhancers	NHEK	skin
6	chr21:45042000-45044200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:45042200-45043200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:45042200-45043600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:45042200-45043600	Enhancers	HMEC	breast

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