Variant report

Variant	rs4439326
Chromosome Location	chr1:180732928-180732929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10494535	0.84[CEU][hapmap];0.88[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12401914	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12402575	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs12403017	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12404501	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12408176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12759582	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs16856361	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs16856367	0.84[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16856409	0.84[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16856422	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34451113	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74135839	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180713400-180742200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:180714800-180740600	Weak transcription	Primary B cells from cord blood	blood
4	chr1:180715400-180747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:180721400-180734000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
7	chr1:180731800-180742400	Weak transcription	NHLF	lung
8	chr1:180732200-180733400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:180732600-180733600	Weak transcription	Fetal Brain Male	brain
10	chr1:180732600-180740600	Weak transcription	HSMM	muscle

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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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