Variant report

Variant	rs61500027
Chromosome Location	chr1:152854493-152854494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10399610	1.00[AMR][1000 genomes]
rs10399676	1.00[AMR][1000 genomes]
rs10399731	1.00[AMR][1000 genomes]
rs12062507	1.00[AMR][1000 genomes]
rs12081158	1.00[AMR][1000 genomes]
rs12084353	1.00[AMR][1000 genomes]
rs12084482	1.00[AMR][1000 genomes]
rs12084802	1.00[AMR][1000 genomes]
rs12091343	1.00[AMR][1000 genomes]
rs12096212	1.00[AMR][1000 genomes]
rs4641263	1.00[AMR][1000 genomes]
rs56809825	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56839988	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57247972	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58496096	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58528923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58759082	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60809123	1.00[AMR][1000 genomes]
rs61113935	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv999918	chr1:152749733-152861866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831592	chr1:152815054-152997162	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:152853200-152855600	Weak transcription	Esophagus	oesophagus
2	chr1:152853600-152855600	Weak transcription	Ovary	ovary
3	chr1:152853600-152857800	Weak transcription	Liver	Liver
4	chr1:152853800-152855600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:152853800-152855600	Weak transcription	HMEC	breast
6	chr1:152853800-152856000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:152853800-152856000	Weak transcription	NHEK	skin
8	chr1:152853800-152856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:152854200-152854600	Weak transcription	GM12878-XiMat	blood

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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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