Variant report

Variant	rs1405919
Chromosome Location	chr7:48590637-48590638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10249768	0.81[AFR][1000 genomes]
rs10260178	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10276788	0.85[AFR][1000 genomes]
rs12533507	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1368656	0.81[AFR][1000 genomes]
rs1527837	0.89[AFR][1000 genomes]
rs1881078	0.81[AFR][1000 genomes]
rs1918611	0.85[AFR][1000 genomes]
rs1918612	0.85[AFR][1000 genomes]
rs4464912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4551288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4917163	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6954644	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv888008	chr7:48568425-48652224	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
3	esv2764056	chr7:48580914-48592025	Enhancers Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
4	esv11768	chr7:48581423-48592171	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
5	nsv514416	chr7:48581830-48592050	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
6	esv1818564	chr7:48581852-48592025	Strong transcription Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv2421774	chr7:48581852-48592025	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
8	nsv442042	chr7:48581852-48592025	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	nsv527625	chr7:48586783-48596337	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48588800-48591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:48589200-48602800	Weak transcription	Primary neutrophils fromperipheralblood	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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