Variant report

Variant	rs7643807
Chromosome Location	chr3:76154084-76154085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12714848	0.81[EUR][1000 genomes]
rs1489090	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1489091	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1489092	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1489093	0.83[AMR][1000 genomes]
rs1489096	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1489097	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1489098	0.81[AMR][1000 genomes]
rs1489099	0.82[AMR][1000 genomes]
rs1903731	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1968951	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2126537	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171638	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2324470	0.81[AMR][1000 genomes]
rs2324471	0.81[AMR][1000 genomes]
rs4260451	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4306863	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4449327	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4484199	0.81[AMR][1000 genomes]
rs4624567	0.82[AMR][1000 genomes]
rs4855969	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6549831	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6549832	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6770732	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6776686	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6776915	0.83[AMR][1000 genomes]
rs6778177	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6778933	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6779552	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6780479	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6780798	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6782618	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6786288	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6788637	0.83[EUR][1000 genomes]
rs6802647	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6806589	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7620001	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7634690	0.84[ASN][1000 genomes]
rs7653310	0.81[AMR][1000 genomes]
rs9754680	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9755934	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9755939	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9815472	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9824924	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9840618	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9852030	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9853890	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9879542	0.83[AMR][1000 genomes];0.81[EUR][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	nsv1012705	chr3:76047819-76276542	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv998038	chr3:76053664-76218646	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv536591	chr3:76053664-76218646	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1007586	chr3:76053664-76280612	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv999868	chr3:76068393-76274977	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2757876	chr3:76077290-76167295	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1004976	chr3:76098108-76218646	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
8	nsv963334	chr3:76144827-76201280	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7643807	EBLN2	cis	cerebellum	SCAN
rs7643807	RYBP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76148600-76156000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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