Variant report

Variant	rs4889644
Chromosome Location	chr16:31282713-31282714
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:31282598..31284168-chr16:31285265..31288546,3	MCF-7	breast:
2	chr16:31278411..31282963-chr16:31285984..31289052,5	MCF-7	breast:
3	chr16:31281353..31282855-chr16:31297634..31299746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169896	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10438639	0.81[EUR][1000 genomes]
rs11641624	0.81[EUR][1000 genomes]
rs11645526	0.81[EUR][1000 genomes]
rs11863627	0.81[EUR][1000 genomes]
rs11865830	0.81[EUR][1000 genomes]
rs12598380	0.83[ASN][1000 genomes]
rs2011491	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2359661	0.85[ASN][1000 genomes]
rs3087796	0.80[EUR][1000 genomes]
rs3764327	0.81[EUR][1000 genomes]
rs3815801	0.87[EUR][1000 genomes]
rs4447446	0.85[ASN][1000 genomes]
rs4561481	0.81[EUR][1000 genomes]
rs4594268	0.80[EUR][1000 genomes]
rs4597342	0.80[EUR][1000 genomes]
rs4889640	0.81[EUR][1000 genomes]
rs6565225	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7193943	0.81[EUR][1000 genomes]
rs7196256	0.81[EUR][1000 genomes]
rs7499192	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8047985	0.80[EUR][1000 genomes]
rs8048583	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8051304	0.81[EUR][1000 genomes]
rs8057320	0.81[EUR][1000 genomes]
rs8062426	0.81[EUR][1000 genomes]
rs889549	0.81[EUR][1000 genomes]
rs929868	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9938177	0.87[EUR][1000 genomes];0.81[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	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4889644	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31277200-31283200	Weak transcription	Lung	lung
2	chr16:31277400-31284600	Weak transcription	HMEC	breast
3	chr16:31277400-31289000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr16:31277400-31290000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:31277600-31283200	Weak transcription	Spleen	Spleen
6	chr16:31277600-31284800	Weak transcription	Primary B cells from cord blood	blood
7	chr16:31277600-31285000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:31277600-31290400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:31277600-31290400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr16:31277600-31290600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:31277800-31284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:31278000-31286600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:31279200-31284800	Weak transcription	NHEK	skin
14	chr16:31279600-31288600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:31279600-31290400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:31280000-31288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:31281400-31284600	Weak transcription	A549	lung
18	chr16:31281400-31289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:31282200-31290000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr16:31282400-31284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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