Variant report

Variant	rs1031228
Chromosome Location	chr8:105187614-105187615
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1031230	0.82[EUR][1000 genomes]
rs1447070	0.82[EUR][1000 genomes]
rs1447073	0.82[EUR][1000 genomes]
rs1562402	0.83[EUR][1000 genomes]
rs1900521	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2249124	0.82[EUR][1000 genomes]
rs2441791	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2441800	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441801	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441805	0.82[EUR][1000 genomes]
rs2441806	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441807	0.81[EUR][1000 genomes]
rs2441808	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441809	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441811	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441812	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2441886	0.83[EUR][1000 genomes]
rs2441887	0.83[EUR][1000 genomes]
rs2441890	0.83[EUR][1000 genomes]
rs2441891	0.83[EUR][1000 genomes]
rs2441900	0.82[EUR][1000 genomes]
rs2441901	0.82[EUR][1000 genomes]
rs2511573	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511574	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511575	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511576	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511577	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2511584	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2511586	0.82[EUR][1000 genomes]
rs2511588	0.82[EUR][1000 genomes]
rs2511589	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2511591	0.82[EUR][1000 genomes]
rs2511639	0.83[EUR][1000 genomes]
rs2511645	0.82[EUR][1000 genomes]
rs28685021	0.88[ASN][1000 genomes]
rs72685059	0.86[ASN][1000 genomes]
rs72685060	0.88[ASN][1000 genomes]
rs72685066	0.89[ASN][1000 genomes]
rs72685070	0.89[ASN][1000 genomes]
rs875503	0.81[EUR][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	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv1847227	chr8:105025912-105251147	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv891251	chr8:105054446-105283340	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv891252	chr8:105106882-105227985	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv831416	chr8:105137789-105296965	Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105156400-105188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105186600-105188000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:105186600-105188000	Enhancers	NHEK	skin
4	chr8:105186800-105188200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:105187000-105187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:105187200-105188200	Enhancers	GM12878-XiMat	blood
7	chr8:105187400-105187800	Weak transcription	HMEC	breast
8	chr8:105187600-105188800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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