Variant report

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr1:226372734-226375432	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
3	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
4	chr1:226374796..226376428-chr1:226594450..226597292,2	K562	blood:
5	chr1:226374445..226376011-chr1:226411656..226414406,2	K562	blood:
6	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
7	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11807397	0.85[AFR][1000 genomes]
rs1219660	0.92[AFR][1000 genomes]
rs1219663	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1219668	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2666860	0.93[CEU][hapmap];0.82[CHB][hapmap];0.98[EUR][1000 genomes]
rs2927340	0.83[YRI][hapmap];0.95[AFR][1000 genomes]
rs2927343	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2927353	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2927354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3845507	0.93[AFR][1000 genomes]
rs59720499	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6678137	0.83[YRI][hapmap]
rs9726248	0.91[AFR][1000 genomes]
rs9729999	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][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	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
3	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1219674	ACBD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375000-226375600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:226375000-226380000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:226375000-226382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:226375200-226377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:226375200-226377200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:226375200-226378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
8	chr1:226375400-226375600	Enhancers	Dnd41	blood
9	chr1:226375400-226376800	Weak transcription	HepG2	liver
10	chr1:226375400-226377800	Weak transcription	Fetal Lung	lung

Quick Search: