Variant report

Variant	rs34403220
Chromosome Location	chr1:166672650-166672651
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:8)

rs_ID	r²[population]
rs12066359	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12070238	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35363771	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs476197	0.90[ASN][1000 genomes]
rs497872	0.90[ASN][1000 genomes]
rs579100	0.90[ASN][1000 genomes]
rs61310882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7536076	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv2752389	chr1:166625342-166706342	Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv947550	chr1:166647096-166673303	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr1:166671400-166673200	Enhancers	Primary hematopoietic stem cells	blood
2	chr1:166671600-166672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:166671800-166676000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:166672200-166672800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:166672200-166674000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:166672600-166673000	Enhancers	Fetal Lung	lung
7	chr1:166672600-166674000	Flanking Active TSS	K562	blood

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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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