Variant report

Variant	rs6943610
Chromosome Location	chr7:69569109-69569110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69567637..69569210-chr7:69569359..69572320,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1008379	0.80[ASN][1000 genomes]
rs10085696	0.81[ASN][1000 genomes]
rs1014059	0.83[ASN][1000 genomes]
rs10235860	0.80[EUR][1000 genomes]
rs10262697	0.81[ASN][1000 genomes]
rs10268235	0.81[EUR][1000 genomes]
rs10499813	0.97[ASN][1000 genomes]
rs12113555	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12155144	0.81[ASN][1000 genomes]
rs12667561	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12669794	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698812	0.81[ASN][1000 genomes]
rs12698814	0.81[ASN][1000 genomes]
rs12698815	0.85[ASN][1000 genomes]
rs12698820	0.91[ASN][1000 genomes]
rs12698835	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12698838	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698841	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12698843	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698846	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698847	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698850	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698851	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12698853	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12698856	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12698857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12698859	0.94[ASN][1000 genomes]
rs12698861	0.83[AMR][1000 genomes]
rs12698862	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12698869	0.97[ASN][1000 genomes]
rs12698875	0.95[ASN][1000 genomes]
rs12698879	0.90[ASN][1000 genomes]
rs12698880	0.90[ASN][1000 genomes]
rs12698884	0.87[ASN][1000 genomes]
rs12698886	0.85[ASN][1000 genomes]
rs12698892	0.81[ASN][1000 genomes]
rs12698893	0.81[ASN][1000 genomes]
rs13228464	0.80[ASN][1000 genomes]
rs13229395	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13231497	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13236841	0.87[ASN][1000 genomes]
rs13242485	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13247796	0.92[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs1404275	0.90[ASN][1000 genomes]
rs1476104	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476105	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17365011	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17365333	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17365375	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17462837	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17604001	0.88[ASN][1000 genomes]
rs1880369	0.97[ASN][1000 genomes]
rs2159679	0.80[ASN][1000 genomes]
rs34519726	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35062112	0.90[ASN][1000 genomes]
rs35317642	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4475377	0.90[ASN][1000 genomes]
rs58849135	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6943630	0.95[ASN][1000 genomes]
rs6946066	0.97[ASN][1000 genomes]
rs6948676	0.93[ASN][1000 genomes]
rs6951909	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6964139	0.95[ASN][1000 genomes]
rs6970670	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6978841	0.81[ASN][1000 genomes]
rs6978919	0.85[ASN][1000 genomes]
rs735060	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7779308	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7780640	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7782771	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7783039	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7783592	0.97[ASN][1000 genomes]
rs7790084	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791954	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7796592	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7800317	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7800759	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7803814	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7807263	0.97[ASN][1000 genomes]
rs7808588	0.90[ASN][1000 genomes]
rs870919	0.93[ASN][1000 genomes]
rs877188	0.83[ASN][1000 genomes]
rs917717	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9638575	0.85[ASN][1000 genomes]
rs9638582	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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
8	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034817	chr7:69507871-69578892	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv538926	chr7:69507871-69578892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1028975	chr7:69513266-69578892	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6943610	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69564600-69569200	Weak transcription	Fetal Heart	heart
2	chr7:69565400-69570000	Weak transcription	Fetal Lung	lung
3	chr7:69565400-69585800	Weak transcription	Fetal Brain Female	brain
4	chr7:69569000-69569800	Enhancers	NHDF-Ad	bronchial
5	chr7:69569000-69570200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links