Variant report

Variant	rs2278814
Chromosome Location	chr7:127881547-127881548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10954174	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs13306517	0.86[ASN][1000 genomes]
rs28954114	1.00[EUR][1000 genomes]
rs28954373	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41528456	0.86[ASN][1000 genomes]
rs4236625	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4728100	1.00[EUR][1000 genomes]
rs4731424	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4731427	1.00[ASN][1000 genomes]
rs59214919	1.00[ASN][1000 genomes]
rs6948206	1.00[EUR][1000 genomes]
rs6956510	0.82[ASN][1000 genomes]
rs72550733	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72550734	1.00[EUR][1000 genomes]
rs72563752	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72563765	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs791606	0.95[ASN][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127878000-127881600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
2	chr7:127878000-127881600	ZNF genes & repeats	Placenta	Placenta
3	chr7:127878600-127887400	Weak transcription	Right Atrium	heart
4	chr7:127880800-127881600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:127880800-127882000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
6	chr7:127881000-127881600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:127881000-127882800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:127881200-127883000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr7:127881400-127881600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
10	chr7:127881400-127881600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
11	chr7:127881400-127881800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr7:127881400-127887400	Weak transcription	iPS DF 19.11 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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