Variant report

Variant	rs6975814
Chromosome Location	chr7:69732592-69732593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10085696	0.90[EUR][1000 genomes]
rs1014059	0.87[EUR][1000 genomes]
rs10262697	0.90[EUR][1000 genomes]
rs10499813	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12112758	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12113555	0.83[EUR][1000 genomes]
rs12155144	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12667561	0.84[ASN][1000 genomes]
rs12669794	0.86[ASN][1000 genomes]
rs12673575	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698835	0.81[ASN][1000 genomes]
rs12698851	0.87[ASN][1000 genomes]
rs12698856	0.81[EUR][1000 genomes]
rs12698857	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12698861	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12698862	0.86[EUR][1000 genomes]
rs12698864	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698865	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698867	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698869	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698873	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12698875	0.89[AMR][1000 genomes]
rs12698879	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12698880	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12698882	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698883	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698884	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12698886	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698892	0.96[EUR][1000 genomes]
rs12698893	0.90[EUR][1000 genomes]
rs13229395	0.84[ASN][1000 genomes]
rs13229686	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13238017	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13340492	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1404275	0.88[AMR][1000 genomes]
rs1476105	0.86[ASN][1000 genomes]
rs17365375	0.86[ASN][1000 genomes]
rs17462837	0.86[ASN][1000 genomes]
rs17604001	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17762460	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1880369	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2030705	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2030706	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2866275	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34519726	0.86[ASN][1000 genomes]
rs35062112	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35317642	0.86[ASN][1000 genomes]
rs4318956	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4475377	0.88[AMR][1000 genomes]
rs4623296	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460539	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66936223	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67847242	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6943630	0.82[AMR][1000 genomes]
rs6945241	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6946066	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6948676	0.89[AMR][1000 genomes]
rs6951909	0.84[ASN][1000 genomes]
rs6953075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6964139	0.83[EUR][1000 genomes]
rs6970670	0.84[ASN][1000 genomes]
rs6971237	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6978841	0.87[EUR][1000 genomes]
rs6978919	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7780640	0.86[ASN][1000 genomes]
rs7782771	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7783592	0.81[EUR][1000 genomes]
rs7783748	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7791954	0.83[EUR][1000 genomes]
rs7799192	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7800317	0.83[ASN][1000 genomes]
rs7803814	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7806363	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7807263	0.83[EUR][1000 genomes]
rs7808588	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs870919	0.89[AMR][1000 genomes]
rs877188	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs917717	0.84[ASN][1000 genomes]
rs9647931	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9647932	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9691023	0.89[AMR][1000 genomes];0.96[ASN][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
rs6975814	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69729800-69736000	Weak transcription	Ovary	ovary
2	chr7:69731000-69734400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69731200-69736000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:69731800-69733200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:69731800-69733400	Enhancers	Fetal Brain Female	brain
6	chr7:69731800-69734400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69732000-69732600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:69732000-69734600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:69732400-69732600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:69732400-69732800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:69732400-69732800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:69732400-69732800	Enhancers	Brain Hippocampus Middle	brain
13	chr7:69732400-69732800	Enhancers	Fetal Intestine Small	intestine
14	chr7:69732400-69732800	Enhancers	Fetal Lung	lung
15	chr7:69732400-69733000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:69732400-69733000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:69732400-69733600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:69732400-69734600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:69732400-69734800	Enhancers	HUES6 Cell Line	embryonic stem cell

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