Variant report

Variant	rs9932707
Chromosome Location	chr16:71862133-71862134
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71860668..71862342-chr16:71866739..71868504,2	K562	blood:
2	chr16:71841850..71845903-chr16:71861394..71864478,5	MCF-7	breast:
3	chr16:71860191..71863148-chr16:71917071..71918896,2	K562	blood:
4	chr16:71861107..71863637-chr16:71865343..71867600,2	K562	blood:
5	chr16:71838848..71841056-chr16:71860564..71862352,2	K562	blood:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction
ENSG00000262140	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10852505	0.82[JPT][hapmap]
rs11075910	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11639902	0.82[JPT][hapmap]
rs11861296	0.82[JPT][hapmap]
rs12149460	0.82[JPT][hapmap]
rs12444594	0.87[EUR][1000 genomes]
rs12447045	0.89[YRI][hapmap]
rs12708919	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap]
rs13332180	0.82[ASW][hapmap]
rs17286411	0.94[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs1834036	0.87[AFR][1000 genomes]
rs2288030	0.96[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2878494	0.82[JPT][hapmap]
rs35619990	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4538017	0.82[ASW][hapmap]
rs4788450	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs4788561	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4788567	0.82[ASW][hapmap]
rs4788568	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788569	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788575	0.96[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788579	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs7198834	1.00[CHB][hapmap]
rs8044004	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8044335	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs9932707	ZFHX3	cis	parietal	SCAN
rs9932707	TK2	cis	parietal	SCAN
rs9932707	KIAA0174	cis	lymphoblastoid	seeQTL
rs9932707	TMEM208	cis	parietal	SCAN
rs9932707	MTSS1L	cis	parietal	SCAN
rs9932707	HPR	cis	cerebellum	SCAN
rs9932707	PSMD7	cis	parietal	SCAN
rs9932707	ZFP1	trans	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71844200-71862200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr16:71851200-71862200	Weak transcription	Fetal Stomach	stomach
3	chr16:71851200-71866400	Weak transcription	HSMMtube	muscle
4	chr16:71852200-71866000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:71852400-71863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:71852800-71864000	Weak transcription	Osteobl	bone
7	chr16:71858000-71863400	Weak transcription	Primary T cells from cord blood	blood
8	chr16:71860800-71863800	Weak transcription	GM12878-XiMat	blood

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