Variant report

Variant	rs6858763
Chromosome Location	chr4:73726150-73726151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11723795	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11728884	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11730890	0.82[EUR][1000 genomes]
rs11731713	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11731791	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1593448	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1593451	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1599445	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1813161	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1813162	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1813163	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2010756	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2126206	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194933	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4146484	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4382014	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4694141	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59830186	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60589574	0.81[EUR][1000 genomes]
rs6446885	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6446894	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6446895	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6810425	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6815004	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6822170	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6825201	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829946	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6832369	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6833453	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6845164	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7377303	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7440448	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7665035	0.80[EUR][1000 genomes]
rs7676987	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7681727	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7694027	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2757068	chr4:73683018-73770378	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759261	chr4:73683018-73770378	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv436952	chr4:73693532-73759117	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv437923	chr4:73699066-73758650	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv818243	chr4:73707973-73758511	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1005704	chr4:73708248-73907315	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv829971	chr4:73709753-73880451	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1014364	chr4:73724140-73771587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6858763	RCHY1	cis	cerebellum	SCAN
rs6858763	CNBP	trans	parietal	SCAN
rs6858763	NAAA	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73724800-73726200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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