Variant report

Variant	rs10748381
Chromosome Location	chr12:44324714-44324715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10785488	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182303	0.82[YRI][hapmap]
rs12229940	0.83[YRI][hapmap]
rs1320918	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17093833	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17093848	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs17093850	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs1819128	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6582491	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7133980	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7301628	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7302694	1.00[AMR][1000 genomes]
rs7971156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976155	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44317600-44325400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:44319000-44325600	Weak transcription	Esophagus	oesophagus
3	chr12:44324000-44325200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44324200-44324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44324200-44325000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44324200-44325000	ZNF genes & repeats	Aorta	Aorta
7	chr12:44324200-44325000	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr12:44324600-44324800	ZNF genes & repeats	Left Ventricle	heart
9	chr12:44324600-44325000	ZNF genes & repeats	Ovary	ovary

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Input of quick search could be:

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

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