Variant report

Variant	rs55889115
Chromosome Location	chr5:112634172-112634173
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112628459..112631026-chr5:112632248..112634333,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171444	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10037836	1.00[AMR][1000 genomes]
rs10037845	1.00[AMR][1000 genomes]
rs10042401	0.89[AMR][1000 genomes]
rs10056104	1.00[AMR][1000 genomes]
rs10477489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10478116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11958613	1.00[AMR][1000 genomes]
rs12110055	1.00[AMR][1000 genomes]
rs13357188	1.00[AMR][1000 genomes]
rs13358281	1.00[AMR][1000 genomes]
rs17135568	0.89[AMR][1000 genomes]
rs17135570	0.89[AMR][1000 genomes]
rs28439752	1.00[AMR][1000 genomes]
rs28462299	1.00[AMR][1000 genomes]
rs28497391	1.00[AMR][1000 genomes]
rs2860051	1.00[AMR][1000 genomes]
rs28711712	1.00[AMR][1000 genomes]
rs57727389	0.89[AMR][1000 genomes]
rs59032550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61560548	1.00[AMR][1000 genomes]
rs73781507	1.00[AMR][1000 genomes]
rs73781509	1.00[AMR][1000 genomes]
rs73781510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781511	1.00[AMR][1000 genomes]
rs73781512	1.00[AMR][1000 genomes]
rs7718459	1.00[AMR][1000 genomes]
rs7720189	1.00[AMR][1000 genomes]
rs7736171	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112632000-112635600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:112632200-112635600	Weak transcription	Ovary	ovary
3	chr5:112632200-112636600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:112632200-112640800	Weak transcription	Right Atrium	heart
5	chr5:112632400-112635600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:112632600-112635200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:112633000-112638600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:112633000-112640800	Weak transcription	HMEC	breast
9	chr5:112633200-112640800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:112634000-112634400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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