Variant report

Variant	rs1927326
Chromosome Location	chr1:78853508-78853509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11162497	0.80[EUR][1000 genomes]
rs11809460	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11809462	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12067110	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs12073698	0.80[EUR][1000 genomes]
rs12074558	0.80[EUR][1000 genomes]
rs12074955	0.80[EUR][1000 genomes]
rs12075295	0.87[EUR][1000 genomes]
rs12079105	1.00[CEU][hapmap]
rs12085484	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12088784	0.80[EUR][1000 genomes]
rs12742293	0.84[YRI][hapmap]
rs1322924	1.00[CEU][hapmap]
rs13375172	0.86[EUR][1000 genomes]
rs28791033	0.80[EUR][1000 genomes]
rs57205467	0.80[EUR][1000 genomes]
rs58858806	0.80[EUR][1000 genomes]
rs59584643	0.86[EUR][1000 genomes]
rs60047746	0.87[EUR][1000 genomes]
rs61388935	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533564	1.00[CEU][hapmap]

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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78848600-78853600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:78852800-78853800	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:78853000-78854400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:78853200-78853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:78853400-78854200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:78853400-78854200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:78853400-78854200	Enhancers	Colon Smooth Muscle	Colon

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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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