Variant report

Variant	rs10955288
Chromosome Location	chr8:103606580-103606581
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103603451..103607129-chr8:103658621..103661960,3	MCF-7	breast:
2	chr8:103605858..103620203-chr8:103816083..103827169,111	MCF-7	breast:
3	chr8:103605191..103610330-chr8:103875286..103877974,4	MCF-7	breast:
4	chr8:103606352..103608915-chr8:103612580..103614660,2	K562	blood:
5	chr8:103422782..103425169-chr8:103603873..103609183,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12544257	0.87[CEU][hapmap]
rs12546601	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs12547574	0.83[AFR][1000 genomes]
rs12547834	1.00[CEU][hapmap]
rs12674646	0.83[AFR][1000 genomes]
rs12674767	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12680598	0.83[AFR][1000 genomes]
rs12680908	0.88[CEU][hapmap]
rs1318752	1.00[ASW][hapmap];0.87[CHB][hapmap];0.94[GIH][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs16869664	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16869676	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs16869724	0.88[CEU][hapmap];0.89[GIH][hapmap];0.85[TSI][hapmap]
rs2053128	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2388192	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2436924	0.94[ASN][1000 genomes]
rs2511701	0.88[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap]
rs2511718	0.82[CHB][hapmap]
rs35509459	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55750587	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55814340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56398883	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60320584	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72683098	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72683100	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72683101	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72683102	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72685103	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72685104	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72685109	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72685110	0.83[AFR][1000 genomes]
rs72685118	0.83[AFR][1000 genomes]
rs72685123	0.83[AFR][1000 genomes]
rs72685128	0.83[AFR][1000 genomes]
rs73276720	1.00[AFR][1000 genomes]
rs9642791	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9642979	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs965660	0.95[CHB][hapmap];0.90[ASN][1000 genomes]
rs980112	0.88[CEU][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10955288	ODF1	cis	parietal	SCAN
rs10955288	CPAMD8	trans	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103596600-103612600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:103598400-103612400	Weak transcription	Fetal Intestine Small	intestine
3	chr8:103598800-103611800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:103603200-103608400	Weak transcription	Left Ventricle	heart
5	chr8:103603400-103612200	Weak transcription	Right Ventricle	heart
6	chr8:103603800-103613000	Weak transcription	Right Atrium	heart
7	chr8:103605200-103609800	Weak transcription	K562	blood
8	chr8:103605200-103610000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:103605200-103612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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