Variant report

Variant	rs2967391
Chromosome Location	chr16:82230392-82230393
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr16:82229456-82230392	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82227788..82230560-chr16:82233020..82235910,2	K562	blood:

Variant related genes	Relation type
RN7SKP190	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11640213	0.81[EUR][1000 genomes]
rs11862388	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1364288	0.80[CHD][hapmap]
rs1424152	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1844727	0.91[CEU][hapmap]
rs1979649	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[EUR][1000 genomes]
rs1979650	0.83[EUR][1000 genomes]
rs1979652	0.83[EUR][1000 genomes]
rs1979653	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs2042426	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2042427	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2317884	0.91[CEU][hapmap]
rs2911410	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2911411	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2911413	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2911416	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2932814	0.91[CEU][hapmap];0.85[CHD][hapmap];0.83[EUR][1000 genomes]
rs2932817	0.83[EUR][1000 genomes]
rs2932818	0.83[EUR][1000 genomes]
rs2932836	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932837	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2932839	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2932840	0.91[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2967337	0.81[EUR][1000 genomes]
rs2967338	0.83[EUR][1000 genomes]
rs2967339	0.91[CEU][hapmap];0.85[CHD][hapmap];0.83[EUR][1000 genomes]
rs2967340	0.91[CEU][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs2967341	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2967345	0.83[EUR][1000 genomes]
rs2967346	0.83[EUR][1000 genomes]
rs2967347	0.83[EUR][1000 genomes]
rs2967348	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2967388	0.93[ASW][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2967393	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2967394	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2967395	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967398	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2967399	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2967410	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34629110	0.88[ASN][1000 genomes]
rs66765750	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67779658	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71388379	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7500585	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7500862	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs902542	0.91[CEU][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs902543	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs929892	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9745812	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9932036	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9941073	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv833302	chr16:82188351-82363863	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1844598	chr16:82195234-82429790	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1847414	chr16:82195234-82429790	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv532600	chr16:82197554-82314289	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv907015	chr16:82203758-82284056	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2967391	MPHOSPH6	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82223000-82231400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr16:82227400-82230600	Weak transcription	NHEK	skin
3	chr16:82227400-82231200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82227400-82231600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:82227600-82230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82227800-82233600	Enhancers	Colon Smooth Muscle	Colon
7	chr16:82228400-82231600	Enhancers	Rectal Smooth Muscle	rectum
8	chr16:82228800-82230600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr16:82229200-82230600	Enhancers	Liver	Liver
10	chr16:82229600-82230400	Flanking Active TSS	HUVEC	blood vessel
11	chr16:82229600-82233200	Enhancers	HMEC	breast

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