Variant report

Variant	rs7952474
Chromosome Location	chr11:101354635-101354636
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10160542	0.90[AFR][1000 genomes]
rs10160655	0.83[AFR][1000 genomes]
rs10501980	0.86[MKK][hapmap];0.89[YRI][hapmap]
rs10791477	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs10791478	0.88[ASW][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs10791479	0.88[YRI][hapmap]
rs10791485	0.84[MKK][hapmap];0.89[YRI][hapmap]
rs10791486	0.89[YRI][hapmap]
rs10791487	0.93[YRI][hapmap]
rs10791490	0.80[MKK][hapmap]
rs10895116	0.85[EUR][1000 genomes]
rs10895117	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10895118	0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs10895119	0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs10895121	0.94[ASW][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs10895123	0.89[YRI][hapmap]
rs10895124	0.83[MKK][hapmap];0.85[YRI][hapmap]
rs10895125	0.86[MKK][hapmap];0.89[YRI][hapmap]
rs11224784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11224785	1.00[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224787	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11224791	0.87[MKK][hapmap];0.89[YRI][hapmap]
rs11224792	0.87[MKK][hapmap];0.89[YRI][hapmap]
rs11224800	0.88[YRI][hapmap]
rs11224801	0.89[YRI][hapmap]
rs11224811	1.00[CHB][hapmap]
rs11224816	0.82[MKK][hapmap]
rs11224862	1.00[JPT][hapmap]
rs11821584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11826165	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12270234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12361641	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12787386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12789670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12796163	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12805398	1.00[JPT][hapmap]
rs34546081	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4129254	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4129255	0.94[ASW][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4403777	0.83[ASW][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs61915999	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6590866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6590870	0.87[MKK][hapmap];0.89[YRI][hapmap]
rs6590872	0.84[YRI][hapmap]
rs7123199	0.82[YRI][hapmap]
rs7924434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7924551	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7927664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7931676	1.00[JPT][hapmap]
rs7931830	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.91[LWK][hapmap];0.83[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7932073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7934021	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7935628	1.00[JPT][hapmap]
rs7938416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9326313	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv2830219	chr11:101319531-101382967	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7952474	DYNC2H1	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101330200-101361400	Weak transcription	Fetal Lung	lung
2	chr11:101337800-101368200	Weak transcription	Ovary	ovary
3	chr11:101342200-101357200	Weak transcription	NHLF	lung
4	chr11:101349600-101357800	Weak transcription	Fetal Brain Male	brain
5	chr11:101350000-101384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:101350200-101356800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:101350200-101358200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:101350200-101359600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:101353800-101361000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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