Variant report

Variant	rs1031230
Chromosome Location	chr8:105257488-105257489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105256696..105258713-chr8:105271860..105274203,2	MCF-7	breast:
2	chr8:105252275..105253878-chr8:105256264..105258557,2	K562	blood:
3	chr8:105254904..105257765-chr8:105258303..105260079,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1026058	1.00[CEU][hapmap]
rs1031228	0.82[EUR][1000 genomes]
rs1447070	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1447073	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1562402	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1900521	0.94[EUR][1000 genomes]
rs2249124	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441791	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2441800	0.98[EUR][1000 genomes]
rs2441801	0.98[EUR][1000 genomes]
rs2441805	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441806	0.98[EUR][1000 genomes]
rs2441807	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2441808	0.98[EUR][1000 genomes]
rs2441809	0.98[EUR][1000 genomes]
rs2441811	0.98[EUR][1000 genomes]
rs2441812	0.98[EUR][1000 genomes]
rs2441886	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441887	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441890	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441891	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441900	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441901	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2441921	1.00[CEU][hapmap]
rs2511564	1.00[CEU][hapmap]
rs2511566	1.00[CEU][hapmap]
rs2511569	1.00[CEU][hapmap]
rs2511573	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511574	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511575	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511576	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2511577	0.97[EUR][1000 genomes]
rs2511584	0.99[EUR][1000 genomes]
rs2511586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511589	0.98[EUR][1000 genomes]
rs2511591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511639	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2511645	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3133283	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875503	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105253400-105266800	Weak transcription	HMEC	breast
2	chr8:105253800-105259000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:105253800-105265800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:105254000-105257800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:105254000-105266600	Weak transcription	NHEK	skin
6	chr8:105255800-105259000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:105256200-105258200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:105256400-105259000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:105256800-105257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:105256800-105270200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:105257200-105257600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:105257200-105257600	Enhancers	Fetal Lung	lung
13	chr8:105257200-105267200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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