Variant report

Variant	rs1227145
Chromosome Location	chr2:168437419-168437420
allele	C/T
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:8)

rs_ID	r²[population]
rs1227130	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1227144	0.81[AMR][1000 genomes]
rs1228658	0.82[AMR][1000 genomes]
rs1228659	0.85[AMR][1000 genomes]
rs1236837	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4667538	0.81[AMR][1000 genomes]
rs73026072	0.90[ASN][1000 genomes]
rs73026073	0.91[ASN][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:7 , 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	chr2:168435800-168437800	Weak transcription	Brain Germinal Matrix	brain
4	chr2:168436600-168438000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:168436600-168438000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:168437000-168438400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:168437200-168438600	Weak transcription	Fetal Lung	lung

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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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