Variant report

Variant	rs7794623
Chromosome Location	chr7:69541182-69541183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10234205	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10234844	0.81[ASN][1000 genomes]
rs10235487	0.91[ASN][1000 genomes]
rs10235781	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10235860	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10257549	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10258962	0.86[ASN][1000 genomes]
rs10268235	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10268924	0.88[ASN][1000 genomes]
rs10270616	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10273270	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10279392	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1035010	0.91[ASN][1000 genomes]
rs1035013	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10452738	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11508453	0.81[ASN][1000 genomes]
rs11761141	0.81[AMR][1000 genomes]
rs11767997	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11978431	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12112638	0.84[ASN][1000 genomes]
rs12698816	0.81[ASN][1000 genomes]
rs12698822	0.81[AMR][1000 genomes]
rs12698825	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12698830	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12698842	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12698849	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12698855	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12698857	0.81[JPT][hapmap]
rs12698871	0.88[ASN][1000 genomes]
rs13226538	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13226923	0.81[ASN][1000 genomes]
rs13228123	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13237811	0.85[ASN][1000 genomes]
rs1464787	0.81[ASN][1000 genomes]
rs1464788	0.81[ASN][1000 genomes]
rs1474368	0.90[ASN][1000 genomes]
rs1558413	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17140933	0.81[ASN][1000 genomes]
rs2159678	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2866075	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28770244	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34617709	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35222730	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35303761	0.81[ASN][1000 genomes]
rs35696945	0.83[ASN][1000 genomes]
rs6415223	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460536	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6460537	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6651055	0.88[ASN][1000 genomes]
rs6944725	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6949651	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6950485	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6950647	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6951921	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6953170	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6957126	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6958981	0.82[AMR][1000 genomes]
rs6961164	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6961345	0.88[ASN][1000 genomes]
rs6962999	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963882	0.82[ASN][1000 genomes]
rs6963904	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6974687	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6975279	0.88[ASN][1000 genomes]
rs6979355	0.81[ASN][1000 genomes]
rs73442405	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7784584	0.86[ASN][1000 genomes]
rs7790729	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7791101	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7795152	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7796080	0.88[ASN][1000 genomes]
rs7796973	0.81[ASN][1000 genomes]
rs7797340	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7805470	0.86[ASN][1000 genomes]
rs7809303	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7809934	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs870920	0.86[ASN][1000 genomes]
rs873835	0.86[ASN][1000 genomes]
rs877687	0.81[ASN][1000 genomes]
rs9638268	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	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
14	nsv1022932	chr7:69496659-69564369	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv538925	chr7:69496659-69564369	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1034817	chr7:69507871-69578892	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv538926	chr7:69507871-69578892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1028975	chr7:69513266-69578892	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7794623	AUTS2	cis	cerebellum	SCAN
rs7794623	VKORC1L1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69529400-69544800	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69537600-69547600	Weak transcription	Ovary	ovary
3	chr7:69537800-69546000	Weak transcription	Fetal Stomach	stomach
4	chr7:69537800-69546600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:69537800-69546800	Weak transcription	Fetal Brain Male	brain
6	chr7:69538400-69543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr7:69541000-69548200	Weak transcription	Psoas Muscle	Psoas

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