Variant report

Variant	rs12679222
Chromosome Location	chr8:63859769-63859770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10090886	0.91[EUR][1000 genomes]
rs10093212	0.88[EUR][1000 genomes]
rs10100456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106324	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs10808728	0.95[EUR][1000 genomes]
rs10957253	0.86[EUR][1000 genomes]
rs11992351	0.88[EUR][1000 genomes]
rs12115136	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12335094	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12550400	0.80[AMR][1000 genomes]
rs13272238	0.88[EUR][1000 genomes]
rs1378522	0.87[EUR][1000 genomes]
rs1455574	0.91[EUR][1000 genomes]
rs17273584	0.80[EUR][1000 genomes]
rs1869729	0.88[EUR][1000 genomes]
rs1869730	0.87[EUR][1000 genomes]
rs1869731	0.87[EUR][1000 genomes]
rs1869732	0.87[EUR][1000 genomes]
rs2353388	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2736676	0.84[AMR][1000 genomes]
rs35185274	0.80[EUR][1000 genomes]
rs35478421	0.80[EUR][1000 genomes]
rs35583011	0.80[EUR][1000 genomes]
rs4237056	0.87[EUR][1000 genomes]
rs4237058	0.87[EUR][1000 genomes]
rs4237059	0.87[EUR][1000 genomes]
rs4237060	0.88[EUR][1000 genomes]
rs4237061	0.88[EUR][1000 genomes]
rs4276687	0.80[EUR][1000 genomes]
rs4279586	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4284039	0.87[EUR][1000 genomes]
rs4292679	0.80[EUR][1000 genomes]
rs4352845	0.94[EUR][1000 genomes]
rs4360287	0.87[EUR][1000 genomes]
rs4368971	0.86[EUR][1000 genomes]
rs4374987	0.86[EUR][1000 genomes]
rs4376492	0.87[EUR][1000 genomes]
rs4377959	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4397399	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4400383	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4412364	0.86[EUR][1000 genomes]
rs4413770	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4434615	0.86[EUR][1000 genomes]
rs4446729	1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs4466391	0.86[EUR][1000 genomes]
rs4478566	0.86[EUR][1000 genomes]
rs4504631	0.86[EUR][1000 genomes]
rs4509316	0.88[EUR][1000 genomes]
rs4521749	0.80[EUR][1000 genomes]
rs4573266	0.86[EUR][1000 genomes]
rs4573267	0.82[AMR][1000 genomes]
rs4592024	0.85[AMR][1000 genomes]
rs4593533	0.86[EUR][1000 genomes]
rs4626587	0.86[EUR][1000 genomes]
rs4739021	0.88[EUR][1000 genomes]
rs4739049	0.80[AMR][1000 genomes]
rs5007413	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6472066	0.85[AMR][1000 genomes]
rs6998134	1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs6998383	0.85[AMR][1000 genomes]
rs6998501	0.86[EUR][1000 genomes]
rs6999604	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7000012	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7000020	0.80[EUR][1000 genomes]
rs7003413	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs7010484	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7387326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7388305	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7463670	0.88[EUR][1000 genomes]
rs7818905	0.85[AMR][1000 genomes]
rs7830289	0.88[EUR][1000 genomes]
rs7839216	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7839874	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv890963	chr8:63846472-63885100	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv890964	chr8:63848556-63898146	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63858800-63860000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:63858800-63860600	Enhancers	Fetal Intestine Large	intestine
3	chr8:63858800-63860600	Enhancers	Fetal Intestine Small	intestine
4	chr8:63859400-63859800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:63859600-63860000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:63859600-63877800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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