Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:90818033..90820526-chr8:90821604..90823395,2	K562	blood:
2	chr8:90817329..90819383-chr8:90914251..90916003,2	MCF-7	breast:
3	chr8:90810531..90814020-chr8:90816566..90819944,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28144	0.81[EUR][1000 genomes]
rs370282	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs376110	0.80[EUR][1000 genomes]
rs394108	0.81[EUR][1000 genomes]
rs39515	0.81[EUR][1000 genomes]
rs39767	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs40382	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs40457	0.81[EUR][1000 genomes]
rs40547	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40636	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs40637	0.81[EUR][1000 genomes]
rs40638	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs421411	0.81[EUR][1000 genomes]
rs422559	0.81[EUR][1000 genomes]
rs42344	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs42345	0.82[EUR][1000 genomes]
rs42346	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs43135	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs43226	0.81[EUR][1000 genomes]
rs43227	0.81[EUR][1000 genomes]
rs43228	0.80[EUR][1000 genomes]
rs441548	0.81[EUR][1000 genomes]
rs445675	0.81[EUR][1000 genomes]
rs51331	0.83[AMR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs435600	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:90814600-90823400	Weak transcription	NHDF-Ad	bronchial
4	chr8:90815800-90819800	Enhancers	Placenta	Placenta
5	chr8:90817400-90825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:90817600-90821200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:90817800-90821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:90818000-90820400	Weak transcription	Osteobl	bone
9	chr8:90818000-90824600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:90818600-90819000	Weak transcription	HepG2	liver
11	chr8:90818600-90824800	Weak transcription	A549	lung

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