Variant report

Variant	rs12749296
Chromosome Location	chr1:222927394-222927395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	0.87[EUR][1000 genomes]
rs12073392	0.84[ASN][1000 genomes]
rs17532708	0.90[EUR][1000 genomes]
rs2068814	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2378603	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2378606	0.81[ASN][1000 genomes]
rs2378607	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28521319	0.90[EUR][1000 genomes]
rs28654270	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28765200	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28787398	0.81[EUR][1000 genomes]
rs34311160	0.84[ASN][1000 genomes]
rs34885880	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35300015	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35725247	0.88[EUR][1000 genomes]
rs35806535	0.84[ASN][1000 genomes]
rs35968825	0.80[ASN][1000 genomes]
rs4240935	0.86[ASN][1000 genomes]
rs4282830	0.90[EUR][1000 genomes]
rs61824331	0.90[EUR][1000 genomes]
rs61825253	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825254	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61825255	0.80[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	0.90[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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222923000-222929000	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:222924800-222927600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:222924800-222927800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:222925200-222927600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:222925200-222928000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:222925600-222927600	Weak transcription	Adipose Nuclei	Adipose
7	chr1:222926000-222928200	Weak transcription	Stomach Mucosa	stomach
8	chr1:222926800-222929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:222927000-222927600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:222927000-222928400	Enhancers	Primary B cells from cord blood	blood
11	chr1:222927000-222929000	Enhancers	NHEK	skin
12	chr1:222927000-222929200	Enhancers	Hela-S3	cervix
13	chr1:222927000-222929200	Enhancers	HMEC	breast
14	chr1:222927200-222929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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