Variant report

Variant	rs1227148
Chromosome Location	chr2:168431583-168431584
allele	G/T
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:15)

rs_ID	r²[population]
rs1227130	0.84[EUR][1000 genomes]
rs1227131	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1227132	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227137	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1227147	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1228657	0.82[EUR][1000 genomes]
rs1228658	0.83[EUR][1000 genomes]
rs1228659	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1235208	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1236837	0.87[EUR][1000 genomes]
rs13402459	0.85[ASN][1000 genomes]
rs71031298	0.87[EUR][1000 genomes]
rs7562513	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7574810	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs882779	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1008206	chr2:168401249-168452887	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv528466	chr2:168402224-168447851	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv583593	chr2:168402224-168452630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1004326	chr2:168403386-168452887	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168429400-168437800	Weak transcription	Fetal Brain Female	brain
2	chr2:168429600-168438000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:168430800-168431800	Enhancers	Fetal Lung	lung
4	chr2:168431000-168433600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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