Variant report

Variant	rs61825253
Chromosome Location	chr1:222930776-222930777
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	chr1:222920162..222922575-chr1:222929876..222931526,2	MCF-7	breast:
2	chr1:222883251..222886152-chr1:222930175..222932987,2	K562	blood:

Variant related genes	Relation type
ENSG00000162819	Chromatin interaction
ENSG00000186063	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11490203	0.84[ASN][1000 genomes]
rs12043288	0.85[EUR][1000 genomes]
rs12073392	0.84[ASN][1000 genomes]
rs12749296	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17532708	0.88[EUR][1000 genomes]
rs2068814	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378603	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2378606	0.81[ASN][1000 genomes]
rs2378607	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28521319	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28654270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28765200	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28787398	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34311160	0.84[ASN][1000 genomes]
rs34885880	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35300015	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35725247	0.87[EUR][1000 genomes]
rs35806535	0.84[ASN][1000 genomes]
rs35968825	0.80[ASN][1000 genomes]
rs4240935	0.86[ASN][1000 genomes]
rs4282830	0.87[EUR][1000 genomes]
rs61824331	0.88[EUR][1000 genomes]
rs61825254	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61825255	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61825258	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61825259	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683071	0.81[ASN][1000 genomes]
rs6700083	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222928000-222932400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:222928000-222932600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:222928000-222933800	Enhancers	Colon Smooth Muscle	Colon
4	chr1:222928400-222930800	Weak transcription	HSMMtube	muscle
5	chr1:222928400-222934200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:222929200-222931200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:222930000-222933000	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:222930600-222930800	Enhancers	Stomach Smooth Muscle	stomach
9	chr1:222930600-222931000	Enhancers	Placenta	Placenta
10	chr1:222930600-222933400	Enhancers	Fetal Muscle Leg	muscle

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