Variant report

Variant	rs9348102
Chromosome Location	chr6:166654968-166654969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10946142	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12524797	0.90[ASN][1000 genomes]
rs4489135	0.83[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4710030	0.95[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs4710031	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6909545	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6931334	0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs932592	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9348099	0.91[ASN][1000 genomes]
rs9348105	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9356450	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356457	0.94[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9364836	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9365974	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029993	chr6:166621852-166695791	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538537	chr6:166621852-166695791	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886934	chr6:166642850-166747572	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9348102	UNC93A	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166650600-166657600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:166651400-166657600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr6:166651800-166655000	Weak transcription	Thymus	Thymus
4	chr6:166651800-166655000	Weak transcription	Dnd41	blood
5	chr6:166653800-166655000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:166654000-166655200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr6:166654400-166655600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:166654400-166659000	Enhancers	Fetal Thymus	thymus
9	chr6:166654600-166655200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr6:166654600-166655200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:166654600-166655800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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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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