Variant report

Variant	rs17604001
Chromosome Location	chr7:69726807-69726808
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10085696	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1014059	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10262697	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10499813	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12112758	0.89[AMR][1000 genomes]
rs12113555	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155144	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12673575	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698838	0.87[ASN][1000 genomes]
rs12698841	0.87[ASN][1000 genomes]
rs12698843	0.88[ASN][1000 genomes]
rs12698846	0.88[ASN][1000 genomes]
rs12698847	0.88[ASN][1000 genomes]
rs12698850	0.86[ASN][1000 genomes]
rs12698853	0.90[ASN][1000 genomes]
rs12698856	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698859	0.88[ASN][1000 genomes]
rs12698861	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12698862	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698864	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12698865	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12698867	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12698869	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698873	0.88[AMR][1000 genomes]
rs12698875	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12698879	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698880	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12698882	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698883	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698884	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698886	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698892	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698893	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12698895	0.81[JPT][hapmap]
rs13229686	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13231497	0.87[ASN][1000 genomes]
rs13238017	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13242485	0.87[ASN][1000 genomes]
rs13247796	0.92[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs13340492	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404275	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1476104	0.88[ASN][1000 genomes]
rs17365011	0.84[ASN][1000 genomes]
rs17365333	0.88[ASN][1000 genomes]
rs17762460	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1880369	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2030705	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2030706	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2866275	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35062112	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4318956	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4475377	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4623296	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58849135	0.81[ASN][1000 genomes]
rs6460539	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66936223	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67847242	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6943610	0.88[ASN][1000 genomes]
rs6943630	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6945241	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6946066	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6948676	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6953075	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6964139	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6971237	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6975814	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6978841	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6978919	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs735060	0.88[ASN][1000 genomes]
rs7779308	0.87[ASN][1000 genomes]
rs7782771	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783039	0.84[ASN][1000 genomes]
rs7783592	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7783748	0.83[EUR][1000 genomes]
rs7790084	0.88[ASN][1000 genomes]
rs7791954	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7796592	0.85[ASN][1000 genomes]
rs7799192	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7800759	0.80[ASN][1000 genomes]
rs7803814	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7806363	0.89[AMR][1000 genomes]
rs7807263	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7808588	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs870919	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs877188	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9638582	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9647931	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9647932	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9691023	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv607431	chr7:69699074-69828729	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	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
rs17604001	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69724200-69731800	Weak transcription	Fetal Brain Female	brain
2	chr7:69724600-69731200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69724800-69728600	Weak transcription	Ovary	ovary
4	chr7:69724800-69732400	Weak transcription	Fetal Lung	lung

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