Variant report

Variant	rs2011491
Chromosome Location	chr16:31280255-31280256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31278411..31282963-chr16:31285984..31289052,5	MCF-7	breast:
2	chr16:31225508..31229530-chr16:31277117..31281279,6	MCF-7	breast:
3	chr16:31225327..31230953-chr16:31277531..31282411,8	MCF-7	breast:
4	chr16:31272641..31274677-chr16:31278876..31282230,3	MCF-7	breast:
5	chr16:31268013..31271102-chr16:31279440..31281089,3	MCF-7	breast:
6	chr16:31273033..31275008-chr16:31278904..31280780,2	K562	blood:
7	chr16:31276981..31278579-chr16:31279607..31281902,2	MCF-7	breast:
8	chr16:31278987..31281601-chr16:31282208..31284163,2	MCF-7	breast:
9	chr16:31190241..31193452-chr16:31279543..31282483,4	MCF-7	breast:
10	chr16:31279444..31281595-chr16:31287575..31289150,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089280	Chromatin interaction
ENSG00000169900	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000169896	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10438639	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11150608	0.86[ASN][1000 genomes]
rs11150611	0.81[EUR][1000 genomes]
rs11150613	0.82[EUR][1000 genomes]
rs11641624	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11642120	0.83[EUR][1000 genomes]
rs11645526	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11863627	0.84[EUR][1000 genomes]
rs11865830	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12598380	0.91[ASN][1000 genomes]
rs1808430	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2359661	0.99[ASN][1000 genomes]
rs3087796	0.84[EUR][1000 genomes]
rs3764327	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3815801	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4075052	0.83[EUR][1000 genomes]
rs4077810	0.83[EUR][1000 genomes]
rs4261553	0.83[EUR][1000 genomes]
rs4359460	0.83[EUR][1000 genomes]
rs4447446	0.99[ASN][1000 genomes]
rs4459557	0.81[EUR][1000 genomes]
rs4561481	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4594268	0.83[EUR][1000 genomes]
rs4597342	0.84[EUR][1000 genomes]
rs4608351	0.83[EUR][1000 genomes]
rs4889639	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4889640	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4889644	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56392848	0.82[EUR][1000 genomes]
rs60660286	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6565225	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192375	0.81[EUR][1000 genomes]
rs7193943	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7196256	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7206295	0.83[EUR][1000 genomes]
rs7499192	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044075	0.83[EUR][1000 genomes]
rs8047985	0.87[EUR][1000 genomes]
rs8048583	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051304	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8052324	0.83[EUR][1000 genomes]
rs8057320	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8060268	0.83[EUR][1000 genomes]
rs8062426	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs889549	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs889551	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs929868	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9673519	0.83[EUR][1000 genomes]
rs9888907	0.83[EUR][1000 genomes]
rs9923270	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9938177	0.95[EUR][1000 genomes];0.85[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
rs2011491	PYDC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:21 , 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	chr16:31279000-31280400	Weak transcription	A549	lung
14	chr16:31279200-31284800	Weak transcription	NHEK	skin
15	chr16:31279400-31281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:31279600-31281000	Weak transcription	GM12878-XiMat	blood
17	chr16:31279600-31288600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:31279600-31290400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:31280000-31281400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:31280000-31288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:31280200-31281200	Strong transcription	Primary B cells from peripheral blood	blood

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