Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:113775818..113778014-chr1:113929925..113932483,2	MCF-7	breast:
2	chr1:113768531..113773204-chr1:113774249..113779816,5	K562	blood:
3	chr1:113775595..113777905-chr1:113778866..113780570,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1088716	0.88[ASN][1000 genomes]
rs1418605	0.83[ASN][1000 genomes]
rs1819248	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2359595	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2763874	0.88[ASN][1000 genomes]
rs6656612	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6696679	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs773572	0.83[ASN][1000 genomes]
rs773574	0.83[ASN][1000 genomes]
rs773598	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773599	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773600	1.00[ASN][1000 genomes]
rs773602	1.00[ASN][1000 genomes]
rs773604	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773607	0.83[ASN][1000 genomes]
rs773608	0.83[ASN][1000 genomes]
rs773609	0.88[ASN][1000 genomes]
rs773610	0.88[ASN][1000 genomes]
rs773614	0.83[ASN][1000 genomes]
rs796471	0.88[ASN][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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv520749	chr1:113772733-113781358	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113761000-113790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113775000-113779200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:113775200-113782600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:113776200-113779200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:113776800-113777000	Enhancers	Fetal Intestine Small	intestine
6	chr1:113776800-113777800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:113777000-113777200	Enhancers	H1 Cell Line	embryonic stem cell

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