Variant report

Variant	rs1434927
Chromosome Location	chr8:69539842-69539843
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:69536031..69537704-chr8:69539574..69541239,2	MCF-7	breast:
2	chr8:69539479..69542323-chr8:69764069..69766188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction
ENSG00000165084	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10087440	0.84[ASN][1000 genomes]
rs10100961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783166	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11785516	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1434926	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434932	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1434934	0.87[ASW][hapmap];0.89[CEU][hapmap];0.92[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs1529830	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164197	0.85[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs34419520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472414	0.90[EUR][1000 genomes]
rs6472415	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67671284	0.87[ASN][1000 genomes]
rs6989204	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7812930	0.96[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[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	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv890985	chr8:69532253-69586034	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1434927	C8orf44	cis	parietal	SCAN
rs1434927	LRRC67	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69532800-69544800	Weak transcription	Aorta	Aorta
2	chr8:69536600-69540400	Enhancers	HSMM	muscle
3	chr8:69537000-69541600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:69537000-69541600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:69537000-69541800	Enhancers	NHDF-Ad	bronchial
6	chr8:69538000-69541000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:69538000-69544800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:69538000-69550400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:69539000-69540000	Enhancers	HMEC	breast
10	chr8:69539000-69540600	Enhancers	HSMMtube	muscle
11	chr8:69539200-69541600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:69539200-69541800	Enhancers	NHLF	lung
13	chr8:69539400-69540000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:69539400-69540000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:69539400-69540000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:69539400-69540000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:69539400-69540200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:69539400-69540200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr8:69539400-69541200	Enhancers	Osteobl	bone
20	chr8:69539400-69541800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:69539600-69540000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:69539600-69540400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:69539800-69544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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