Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:148646288..148648012-chr4:148649109..148651938,2	K562	blood:
2	chr4:148644750..148646283-chr4:148646417..148648136,2	MCF-7	breast:
3	chr4:148644588..148650740-chr4:148651237..148656325,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11099667	0.84[ASN][1000 genomes]
rs11099669	0.84[AMR][1000 genomes]
rs11725260	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11726957	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12502667	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13109759	0.81[ASN][1000 genomes]
rs13128620	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13134018	0.82[AMR][1000 genomes]
rs13144139	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1969102	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2055551	0.84[AMR][1000 genomes]
rs36052332	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4835093	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4835446	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56224422	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6535556	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6535558	0.84[AMR][1000 genomes]
rs6535559	0.84[AMR][1000 genomes]
rs6822971	0.84[AMR][1000 genomes]
rs6827786	0.86[AMR][1000 genomes]
rs6828600	0.81[EUR][1000 genomes]
rs6836509	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6839987	0.84[AMR][1000 genomes]
rs6845560	0.84[AMR][1000 genomes]
rs7661297	0.89[EUR][1000 genomes]
rs7666807	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7673234	0.84[AMR][1000 genomes]
rs7673606	0.84[AMR][1000 genomes]
rs905606	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9332471	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148644800-148652400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:148645000-148648400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:148645000-148648400	Weak transcription	NHDF-Ad	bronchial
4	chr4:148645000-148652000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:148645000-148652200	Weak transcription	Fetal Kidney	kidney
6	chr4:148645000-148652400	Weak transcription	Liver	Liver
7	chr4:148646000-148652200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:148646200-148651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:148646200-148652200	Weak transcription	GM12878-XiMat	blood
10	chr4:148646400-148647600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:148646400-148648400	Weak transcription	Gastric	stomach
12	chr4:148646400-148651400	Weak transcription	HepG2	liver
13	chr4:148646400-148652400	Weak transcription	A549	lung
14	chr4:148647400-148648400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:148647400-148648600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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