Variant report

Variant	rs6996823
Chromosome Location	chr8:3274215-3274216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10096046	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10113529	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10282982	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs10282987	0.82[AFR][1000 genomes]
rs10283040	0.82[AFR][1000 genomes]
rs10283217	0.82[AFR][1000 genomes]
rs10283244	0.82[AFR][1000 genomes]
rs12678935	0.86[EUR][1000 genomes]
rs13248356	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap]
rs13273724	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550890	0.84[EUR][1000 genomes]
rs17066009	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17066112	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17066114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs17320990	1.00[CHB][hapmap]
rs17394011	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap]
rs2121653	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28400437	0.86[EUR][1000 genomes]
rs2840099	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411980	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28419735	0.82[AFR][1000 genomes]
rs28438564	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28465534	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28525140	0.84[EUR][1000 genomes]
rs28548672	0.82[AFR][1000 genomes]
rs28582416	0.82[AFR][1000 genomes]
rs28594776	0.84[EUR][1000 genomes]
rs2897376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap]
rs35812877	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41432447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs62503517	1.00[ASN][1000 genomes]
rs62503523	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62505604	0.89[EUR][1000 genomes]
rs62505605	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62505622	0.86[EUR][1000 genomes]
rs62505623	0.86[EUR][1000 genomes]
rs6558767	0.83[LWK][hapmap]
rs6558770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981641	1.00[ASN][1000 genomes]
rs6987527	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000196	1.00[ASN][1000 genomes]
rs7004117	1.00[ASN][1000 genomes]
rs7010586	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011313	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015224	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap];1.00[ASN][1000 genomes]
rs7018165	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs7018325	0.83[CEU][hapmap];0.84[MKK][hapmap];0.86[EUR][1000 genomes]
rs73497412	0.86[EUR][1000 genomes]
rs73497427	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9314487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033589	chr8:2498609-3305100	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018407	chr8:2724294-3305100	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv915568	chr8:2725834-3291312	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025408	chr8:2733604-3302447	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1026643	chr8:3077210-3277827	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv609735	chr8:3272206-3281550	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6996823	ERICH1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3274000-3274400	Enhancers	Brain Cingulate Gyrus	brain
2	chr8:3274000-3274400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:3274000-3275600	Enhancers	Fetal Heart	heart

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