Variant report

Variant	rs57124922
Chromosome Location	chr2:86822173-86822174
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]
rs10520428	1.00[AMR][1000 genomes]
rs1561253	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2044233	1.00[AMR][1000 genomes]
rs4341929	1.00[AMR][1000 genomes]
rs56863297	0.87[AMR][1000 genomes]
rs61248967	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72934428	1.00[AMR][1000 genomes]
rs73949837	1.00[AFR][1000 genomes];1.00[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86819000-86823400	Enhancers	Colon Smooth Muscle	Colon
2	chr2:86819400-86822600	Enhancers	Fetal Heart	heart
3	chr2:86819800-86831000	Weak transcription	Fetal Brain Female	brain
4	chr2:86820000-86830600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:86820000-86830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:86820200-86831000	Weak transcription	Fetal Brain Male	brain
7	chr2:86820200-86831000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:86820400-86828400	Weak transcription	Fetal Stomach	stomach
9	chr2:86820600-86831000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:86821200-86823000	Weak transcription	Psoas Muscle	Psoas
11	chr2:86821800-86822200	Weak transcription	Rectal Smooth Muscle	rectum

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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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