Variant report

Variant	rs2159679
Chromosome Location	chr7:69314965-69314966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1008379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085775	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1014382	0.80[ASN][1000 genomes]
rs10237145	0.84[ASN][1000 genomes]
rs10241485	0.84[ASN][1000 genomes]
rs11765886	0.82[ASN][1000 genomes]
rs11974201	0.81[EUR][1000 genomes]
rs12698812	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698814	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698815	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698820	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12698826	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12698838	0.81[ASN][1000 genomes]
rs12698841	0.81[ASN][1000 genomes]
rs12698843	0.80[ASN][1000 genomes]
rs12698846	0.80[ASN][1000 genomes]
rs12698847	0.80[ASN][1000 genomes]
rs12698850	0.80[ASN][1000 genomes]
rs13228464	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13231497	0.81[ASN][1000 genomes]
rs13232095	0.91[ASN][1000 genomes]
rs13236841	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13242485	0.81[ASN][1000 genomes]
rs1476104	0.80[ASN][1000 genomes]
rs17140980	0.81[EUR][1000 genomes]
rs17140982	0.81[EUR][1000 genomes]
rs17353815	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17365011	0.84[ASN][1000 genomes]
rs17365333	0.80[ASN][1000 genomes]
rs17458097	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2058395	0.84[ASN][1000 genomes]
rs210598	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs210600	0.84[ASN][1000 genomes]
rs210603	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2533432	0.80[ASN][1000 genomes]
rs2851488	0.80[ASN][1000 genomes]
rs2851517	0.80[ASN][1000 genomes]
rs2865805	0.81[EUR][1000 genomes]
rs2903097	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34249708	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35322474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717521	0.84[ASN][1000 genomes]
rs521259	0.84[ASN][1000 genomes]
rs563740	0.80[ASN][1000 genomes]
rs585282	0.81[JPT][hapmap]
rs588004	0.80[ASN][1000 genomes]
rs595681	0.81[JPT][hapmap]
rs60739014	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs608796	0.88[ASN][1000 genomes]
rs610930	0.81[JPT][hapmap]
rs611052	0.80[ASN][1000 genomes]
rs611573	0.80[ASN][1000 genomes]
rs622767	0.88[ASN][1000 genomes]
rs624626	0.80[ASN][1000 genomes]
rs674865	0.80[ASN][1000 genomes]
rs6943610	0.80[ASN][1000 genomes]
rs6955815	0.84[ASN][1000 genomes]
rs6959766	0.88[ASN][1000 genomes]
rs6963101	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6974004	0.84[ASN][1000 genomes]
rs726372	0.81[EUR][1000 genomes]
rs735060	0.80[ASN][1000 genomes]
rs763759	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7779308	0.81[ASN][1000 genomes]
rs7781403	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7790084	0.80[ASN][1000 genomes]
rs7793984	0.84[ASN][1000 genomes]
rs7796592	0.83[ASN][1000 genomes]
rs7801117	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7808773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917616	0.80[ASN][1000 genomes]
rs9332399	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs9638575	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638582	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv532781	chr7:69297250-69330796	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2159679	AUTS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311000-69320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
3	chr7:69311600-69315400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:69311600-69323600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:69313600-69321200	Weak transcription	Brain Germinal Matrix	brain
6	chr7:69313600-69321600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:69313600-69323800	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:69313800-69321800	Weak transcription	Fetal Lung	lung

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