Variant report

Variant	rs10489548
Chromosome Location	chr1:70054770-70054771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489553	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12023616	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12025096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044761	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs12047807	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1582204	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7515290	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs800930	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs800931	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs9728511	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv949691	chr1:69749722-70302201	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3384194	chr1:69885024-70275430	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830126	chr1:70014879-70167979	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2548607	chr1:70054692-70054798	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70051600-70055000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:70051600-70061800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:70053200-70061200	Weak transcription	Fetal Brain Female	brain
4	chr1:70053400-70055000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:70054200-70055000	Enhancers	Fetal Brain Male	brain
6	chr1:70054600-70055200	Enhancers	Brain Inferior Temporal Lobe	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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