Variant report

Variant	rs281577
Chromosome Location	chr2:133699811-133699812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10198336	0.86[EUR][1000 genomes]
rs12999715	0.81[ASN][1000 genomes]
rs13011681	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs13016800	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs16857164	1.00[JPT][hapmap]
rs17398599	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs281574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs281575	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs281576	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs281578	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs281579	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs281580	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs281581	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs281582	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs281583	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs281584	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7597826	1.00[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:133693200-133700400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:133694800-133702600	Weak transcription	Left Ventricle	heart
3	chr2:133695800-133701200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:133699200-133701200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:133699200-133701200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:133699200-133701400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:133699200-133701400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:133699200-133701400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:133699200-133720600	Weak transcription	Fetal Lung	lung
10	chr2:133699400-133700000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:133699800-133708000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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