Variant report

Variant	rs6998443
Chromosome Location	chr8:68541850-68541851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10087399	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100275	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10100583	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10957393	0.83[MEX][hapmap]
rs10957394	0.92[ASN][1000 genomes]
rs2114050	0.87[CEU][hapmap];0.94[MEX][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2162146	0.83[MEX][hapmap]
rs28508555	0.92[ASN][1000 genomes]
rs379085	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs422799	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs450738	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs57577405	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs582424	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs6472324	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472325	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6472326	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap]
rs6986533	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7823371	0.88[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7841258	0.82[CEU][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes]
rs900896	0.82[JPT][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1032986	chr8:68468044-68789883	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv530518	chr8:68521420-68973114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv437625	chr8:68541850-68554213	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6998443	MTFR1	cis	parietal	SCAN
rs6998443	DNAJC5B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68541400-68543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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