Variant report

Variant	rs55977448
Chromosome Location	chr4:8542918-8542919
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8538338..8543611-chr4:8548493..8553766,7	MCF-7	breast:
2	chr4:8534354..8538693-chr4:8538746..8544060,9	MCF-7	breast:
3	chr4:8542053..8545358-chr4:8547295..8551816,4	MCF-7	breast:
4	chr4:8542415..8545187-chr4:8582095..8584312,2	MCF-7	breast:
5	chr4:8541623..8544258-chr4:8557872..8560632,2	K562	blood:

Variant related genes	Relation type
ENSG00000155269	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13140128	0.88[ASN][1000 genomes]
rs16842480	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16842483	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16842486	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16842498	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842557	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842563	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16842567	0.86[ASN][1000 genomes]
rs3103082	0.92[ASN][1000 genomes]
rs4247232	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4247233	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4259044	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4358384	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4619877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696692	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4696693	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4696695	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4696696	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4696838	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55765509	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55789011	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56053534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61258495	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62287446	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62287455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs869600	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs869602	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs883607	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv461221	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv593640	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv980117	chr4:8535043-8545141	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
9	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8539400-8546400	Weak transcription	HSMMtube	muscle
2	chr4:8539600-8546400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:8541200-8546000	Weak transcription	HSMM	muscle
4	chr4:8541400-8544600	Weak transcription	Esophagus	oesophagus
5	chr4:8541600-8549000	Weak transcription	HMEC	breast
6	chr4:8541800-8543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:8541800-8545800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:8542200-8544000	Weak transcription	NHDF-Ad	bronchial
9	chr4:8542200-8546200	Weak transcription	Osteobl	bone
10	chr4:8542200-8546400	Weak transcription	NHLF	lung
11	chr4:8542200-8548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:8542400-8544200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:8542800-8544400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:8542800-8544400	Weak transcription	Placenta	Placenta

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