Variant report

Variant	rs7133994
Chromosome Location	chr12:44331464-44331465
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10748383	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748384	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785484	0.90[YRI][hapmap]
rs10785485	0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs10785486	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785487	0.87[AFR][1000 genomes]
rs7296367	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7955667	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7979913	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44324800-44352600	Weak transcription	Left Ventricle	heart
2	chr12:44325000-44340800	Weak transcription	Aorta	Aorta
3	chr12:44325000-44341800	Weak transcription	Ovary	ovary
4	chr12:44325200-44342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44326600-44347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:44327400-44343000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44330200-44332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44330600-44331800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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