Variant report

Variant	rs10491254
Chromosome Location	chr5:127224299-127224300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10491253	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11744423	0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61206778	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347072	0.86[AMR][1000 genomes];1.00[EUR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127221200-127226600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:127221200-127227400	Weak transcription	Brain Anterior Caudate	brain
3	chr5:127221200-127228200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:127221200-127228200	Weak transcription	Fetal Stomach	stomach
5	chr5:127222000-127228600	Weak transcription	Left Ventricle	heart
6	chr5:127222200-127227400	Weak transcription	Brain Hippocampus Middle	brain
7	chr5:127222200-127227600	Weak transcription	HSMMtube	muscle
8	chr5:127222600-127228600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:127222800-127227200	Weak transcription	HUVEC	blood vessel
10	chr5:127222800-127227400	Weak transcription	Stomach Mucosa	stomach
11	chr5:127224200-127224800	Enhancers	A549	lung

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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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