Variant report

Variant	rs322749
Chromosome Location	chr7:127777713-127777714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs178733	0.84[ASN][1000 genomes]
rs184430	0.82[ASN][1000 genomes]
rs322730	0.97[ASN][1000 genomes]
rs322732	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs322738	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322752	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs322755	0.96[ASN][1000 genomes]
rs322756	0.85[ASN][1000 genomes]
rs322760	0.84[ASN][1000 genomes]
rs322761	0.84[ASN][1000 genomes]
rs322762	0.84[ASN][1000 genomes]
rs322765	0.84[ASN][1000 genomes]
rs322766	0.84[ASN][1000 genomes]
rs322768	0.83[ASN][1000 genomes]
rs322770	0.83[ASN][1000 genomes]
rs322771	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs322775	0.82[ASN][1000 genomes]
rs322778	0.82[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 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	chr7:127776600-127778000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr7:127776800-127777800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:127777000-127777800	Bivalent Enhancer	HUVEC	blood vessel
4	chr7:127777400-127777800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:127777400-127778000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
6	chr7:127777600-127777800	Bivalent Enhancer	Fetal Intestine Large	intestine
7	chr7:127777600-127777800	Bivalent Enhancer	Fetal Intestine Small	intestine

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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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