Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:209991113..209993100-chr1:209999001..210001316,2	K562	blood:
2	chr1:209991325..209994197-chr1:209997349..210000501,3	K562	blood:
3	chr1:209991265..209992886-chr1:209994565..209997143,2	MCF-7	breast:
4	chr1:209987591..209990855-chr1:209991529..209994207,3	K562	blood:
5	chr1:209988063..209993866-chr1:209997170..210003138,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117597	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1044516	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11803382	0.96[AFR][1000 genomes]
rs11805830	0.96[AFR][1000 genomes]
rs17015218	0.90[AFR][1000 genomes]
rs17015224	0.90[AFR][1000 genomes]
rs17015226	0.90[AFR][1000 genomes]
rs17015259	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2073485	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235372	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235373	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3753518	0.91[AFR][1000 genomes]
rs4844895	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58637469	0.90[AFR][1000 genomes]
rs6540559	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6540560	0.94[AFR][1000 genomes]
rs6540561	0.90[AFR][1000 genomes]
rs6694552	0.90[AFR][1000 genomes]
rs6696825	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs742214	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs742215	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7522250	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7550857	0.87[AFR][1000 genomes]
rs764093	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs926346	0.89[AFR][1000 genomes]
rs926347	0.90[AFR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12070337	TRAF3IP3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209989600-209996000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:209990000-209993600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:209991000-209994200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:209991200-209992200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:209991200-209994200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209991200-209994200	Weak transcription	NHEK	skin
7	chr1:209991600-209996000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:209992000-209992800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:209992000-209993200	Enhancers	HMEC	breast

Quick Search: