Variant report

Variant	rs1020661
Chromosome Location	chr5:57179504-57179505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10805500	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11949779	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11952774	0.90[JPT][hapmap];0.88[YRI][hapmap]
rs13155230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35310736	0.91[AFR][1000 genomes]
rs4618400	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs733990	0.91[AFR][1000 genomes]
rs7716711	0.83[ASN][1000 genomes]
rs7734050	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57175000-57185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:57176600-57183400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:57179000-57180000	Enhancers	Fetal Lung	lung
4	chr5:57179200-57179800	Enhancers	Fetal Stomach	stomach
5	chr5:57179200-57181600	Enhancers	Placenta	Placenta
6	chr5:57179200-57183600	Weak transcription	Fetal Heart	heart
7	chr5:57179400-57180600	Weak transcription	Aorta	Aorta

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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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