Variant report

Variant	rs1731424
Chromosome Location	chr12:44282880-44282881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10506233	1.00[CHB][hapmap]
rs11182312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182363	1.00[CHB][hapmap]
rs11182371	1.00[CHB][hapmap]
rs11182376	1.00[CHB][hapmap]
rs11182389	1.00[CHB][hapmap]
rs11182410	1.00[CHB][hapmap]
rs12296939	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12297529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12297544	1.00[CEU][hapmap]
rs12299112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299151	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12303163	1.00[CHB][hapmap]
rs12307180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310801	1.00[CHB][hapmap]
rs12315211	1.00[CEU][hapmap]
rs12319776	1.00[CHB][hapmap]
rs12320155	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12320752	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321149	1.00[CHB][hapmap]
rs1388775	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1406786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675759	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675791	0.83[YRI][hapmap]
rs1731422	0.83[ASW][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs7133336	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307888	1.00[CEU][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956766	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957146	1.00[CEU][hapmap]
rs7969724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971859	1.00[CEU][hapmap]
rs9971895	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
4	chr12:44278600-44285800	Weak transcription	Osteobl	bone
5	chr12:44278600-44287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:44279200-44286200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:44279200-44292600	Weak transcription	Left Ventricle	heart
8	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:44279600-44283200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44279600-44285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:44280200-44286000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:44281800-44287600	Weak transcription	Psoas Muscle	Psoas
13	chr12:44282800-44289800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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