Variant report

Variant	rs61529391
Chromosome Location	chr22:31466096-31466097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31460561..31462331-chr22:31465438..31468064,2	K562	blood:
2	chr22:31464585..31466786-chr22:31479626..31481207,2	MCF-7	breast:
3	chr22:31465732..31467345-chr22:31476374..31477926,2	MCF-7	breast:
4	chr22:31450083..31452668-chr22:31463620..31466392,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11913100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16989281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286214	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28412926	1.00[ASN][1000 genomes]
rs28461534	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56095120	0.87[AMR][1000 genomes]
rs56169845	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997855	0.83[ASN][1000 genomes]
rs62236113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236114	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62236122	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236124	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236125	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62236126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7284985	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7285584	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465000-31466200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:31465200-31466200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31465200-31466400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:31465400-31466200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr22:31465400-31466200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:31465400-31466400	Enhancers	NHEK	skin
7	chr22:31465400-31471600	Weak transcription	Fetal Intestine Large	intestine
8	chr22:31465600-31466200	Enhancers	A549	lung
9	chr22:31465600-31466200	Enhancers	HMEC	breast
10	chr22:31465600-31466200	Enhancers	Osteobl	bone
11	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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