Variant report

Variant	rs28954095
Chromosome Location	chr7:127887662-127887663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17151913	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28954090	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28959471	1.00[MEX][hapmap]
rs3793162	0.94[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58495720	1.00[EUR][1000 genomes]
rs6956510	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs712721	1.00[EUR][1000 genomes]
rs73463725	1.00[EUR][1000 genomes]
rs7796202	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791611	0.89[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs791612	1.00[TSI][hapmap];0.89[YRI][hapmap]
rs791614	0.89[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv429811	chr7:127857891-127889049	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127885600-127887800	Enhancers	Adipose Nuclei	Adipose
2	chr7:127886800-127887800	Enhancers	Fetal Muscle Trunk	muscle
3	chr7:127886800-127888000	Enhancers	Fetal Muscle Leg	muscle
4	chr7:127886800-127889200	Enhancers	Placenta	Placenta
5	chr7:127887000-127887800	Enhancers	HSMMtube	muscle
6	chr7:127887200-127889600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:127887400-127887800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:127887400-127888000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:127887400-127888200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:127887600-127887800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:127887600-127888000	Enhancers	Hela-S3	cervix
12	chr7:127887600-127888200	Enhancers	A549	lung
13	chr7:127887600-127888200	Bivalent Enhancer	K562	blood
14	chr7:127887600-127894000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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