Variant report

Variant	rs12947517
Chromosome Location	chr17:17539278-17539279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11650499	0.83[ASN][1000 genomes]
rs11869313	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11871738	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12602348	0.81[EUR][1000 genomes]
rs12937108	1.00[JPT][hapmap]
rs12939297	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12941217	1.00[JPT][hapmap]
rs12942708	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12943416	0.96[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945496	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12951181	1.00[JPT][hapmap]
rs12951347	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35372447	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35660942	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58251514	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62066210	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9900673	0.81[EUR][1000 genomes]
rs9911672	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9913096	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17528800-17543400	Weak transcription	Spleen	Spleen
2	chr17:17537200-17539400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:17537200-17541600	Weak transcription	HMEC	breast
4	chr17:17537200-17541800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:17537200-17541800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:17538600-17539600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr17:17538600-17541000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
8	chr17:17538800-17540200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr17:17539000-17539400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:17539200-17540200	Enhancers	Adipose Nuclei	Adipose
11	chr17:17539200-17540400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr17:17539200-17541200	Enhancers	Fetal Muscle Leg	muscle
13	chr17:17539200-17541200	Enhancers	Fetal Stomach	stomach

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links