Variant report

Variant	rs10261379
Chromosome Location	chr7:70935693-70935694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10229218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231160	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10249266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263612	0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10264348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269550	0.95[ASN][1000 genomes]
rs11535131	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11561753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12536772	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28737355	0.94[ASN][1000 genomes]
rs36109349	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4075533	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4075535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236252	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4403306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4476891	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4521648	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[ASN][1000 genomes]
rs4535614	0.81[MEX][hapmap]
rs4577851	0.89[ASN][1000 genomes]
rs55810201	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55998816	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57078692	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs57551096	0.95[ASN][1000 genomes]
rs57914683	0.95[ASN][1000 genomes]
rs58454573	0.95[ASN][1000 genomes]
rs58520021	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58840129	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59209078	0.95[ASN][1000 genomes]
rs59497117	0.96[ASN][1000 genomes]
rs59524554	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59724842	0.95[ASN][1000 genomes]
rs60191232	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs60955657	0.99[ASN][1000 genomes]
rs61080489	0.96[ASN][1000 genomes]
rs6947338	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6965355	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6977404	0.96[ASN][1000 genomes]
rs73365669	0.96[ASN][1000 genomes]
rs73365694	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7786783	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7787297	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805130	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806529	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10261379	AUTS2	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70927200-70937800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:70929400-70936000	Weak transcription	Ovary	ovary
3	chr7:70931400-70936400	Weak transcription	Right Atrium	heart
4	chr7:70932400-70936800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:70933000-70937200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:70933800-70935800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:70934800-70939400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:70935000-70939200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:70935000-70939400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:70935200-70935800	Enhancers	Fetal Heart	heart
11	chr7:70935200-70935800	Enhancers	Fetal Lung	lung
12	chr7:70935200-70935800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:70935200-70936400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:70935200-70938800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:70935200-70939200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:70935200-70939200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:70935200-70939400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:70935400-70935800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:70935400-70936000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:70935400-70936000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:70935400-70936800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:70935600-70939000	Enhancers	HUES64 Cell Line	embryonic stem cell

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