Variant report

Variant	rs16856422
Chromosome Location	chr1:180739141-180739142
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494535	0.81[ASN][1000 genomes]
rs12401914	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12403017	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12404501	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408146	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12408176	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12565658	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566450	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16856367	0.85[ASN][1000 genomes]
rs16856409	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34451113	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4439326	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74135839	0.96[AFR][1000 genomes];0.83[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:14 , 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	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
6	chr1:180731800-180742400	Weak transcription	NHLF	lung
7	chr1:180732600-180740600	Weak transcription	HSMM	muscle
8	chr1:180734600-180739800	Weak transcription	Fetal Heart	heart
9	chr1:180734800-180739600	Weak transcription	Fetal Brain Female	brain
10	chr1:180734800-180742200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:180736000-180739600	Weak transcription	Fetal Brain Male	brain
12	chr1:180736800-180740600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:180739000-180740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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