Variant report

Variant	rs197109
Chromosome Location	chr1:57650492-57650493
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10789046	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10889030	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs155287	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs155288	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs155312	0.91[JPT][hapmap]
rs1831870	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs197110	0.88[CEU][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes]
rs624526	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs6680429	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs6693209	0.96[CHB][hapmap];0.87[JPT][hapmap]
rs7546422	0.96[CHB][hapmap];0.87[JPT][hapmap]
rs9970802	0.95[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57647000-57670600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57647200-57655800	Weak transcription	Fetal Intestine Large	intestine

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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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