Variant report

Variant	rs7969724
Chromosome Location	chr12:44280202-44280203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44127316..44130313-chr12:44278484..44280502,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10506233	1.00[CHB][hapmap]
rs11182312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182317	0.82[AFR][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]
rs12297529	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12297544	1.00[CEU][hapmap]
rs12299112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299151	1.00[EUR][1000 genomes]
rs12303163	1.00[CHB][hapmap]
rs12307180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][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]
rs12320752	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321149	1.00[CHB][hapmap]
rs1388775	1.00[CHB][hapmap]
rs1406786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675759	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731424	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]
rs7133336	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307888	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957146	1.00[CEU][hapmap]
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:12 , 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	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:44278600-44285800	Weak transcription	Osteobl	bone
6	chr12:44278600-44287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:44279200-44286200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:44279200-44292600	Weak transcription	Left Ventricle	heart
9	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:44279600-44283200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:44279600-44285400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:44280200-44286000	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links