Variant report

Variant	rs12080606
Chromosome Location	chr1:225851222-225851223
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10082003	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10915853	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2035916	0.85[AMR][1000 genomes]
rs28818505	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3904084	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs475794	0.80[AMR][1000 genomes]
rs59363938	0.80[AMR][1000 genomes]
rs9651009	0.83[AMR][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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225842000-225865000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:225843000-225852400	Weak transcription	Psoas Muscle	Psoas
3	chr1:225844000-225854000	Weak transcription	Fetal Lung	lung
4	chr1:225845600-225852200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:225845600-225858400	Weak transcription	Right Atrium	heart
6	chr1:225846000-225858000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:225848400-225854000	Weak transcription	HUVEC	blood vessel
8	chr1:225849000-225853800	Weak transcription	Adipose Nuclei	Adipose
9	chr1:225850000-225854000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:225850600-225854000	Weak transcription	Fetal Stomach	stomach
11	chr1:225850600-225863200	Weak transcription	Fetal Heart	heart
12	chr1:225851200-225851400	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:225851200-225854000	Weak transcription	Colon Smooth Muscle	Colon

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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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