Variant report

Variant	rs57019461
Chromosome Location	chr2:178707221-178707222
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]
rs16823484	0.88[AFR][1000 genomes]
rs16865818	1.00[AFR][1000 genomes]
rs16865821	1.00[AFR][1000 genomes]
rs57352786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57715307	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890101	1.00[AMR][1000 genomes]
rs58779934	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60586489	1.00[AMR][1000 genomes]
rs61339042	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61448024	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61541689	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708449	0.84[AFR][1000 genomes]
rs6717171	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733229	0.84[AFR][1000 genomes]
rs6750238	0.81[AFR][1000 genomes]
rs7578601	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586771	1.00[AMR][1000 genomes]
rs9679242	1.00[AMR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583690	chr2:178638381-178712283	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv3053	chr2:178690640-178735132	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178699800-178716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:178704000-178709000	Weak transcription	Pancreas	Pancrea
3	chr2:178706800-178707600	Enhancers	Colonic Mucosa	Colon
4	chr2:178706800-178708400	Enhancers	Fetal Intestine Large	intestine
5	chr2:178707000-178707400	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:178707000-178708600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:178707200-178707600	Enhancers	Adipose Nuclei	Adipose

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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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