Variant report

No.	Distal block	Cell Line	Cell type
1	chr18:9612700..9615548-chr18:9635464..9640356,8	MCF-7	breast:
2	chr18:9633615..9636124-chr18:9641981..9643661,2	K562	blood:
3	chr18:9627920..9630651-chr18:9632769..9635738,3	K562	blood:

Variant related genes	Relation type
ENSG00000263627	Chromatin interaction
ENSG00000154845	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17508949	0.81[AMR][1000 genomes]
rs61746389	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61749090	0.96[EUR][1000 genomes]
rs61749091	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62080294	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62080298	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080299	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62080304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62080305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62088882	0.81[EUR][1000 genomes]
rs62088909	0.81[EUR][1000 genomes]
rs62088910	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62088911	0.93[EUR][1000 genomes]
rs62088912	0.91[EUR][1000 genomes]
rs62088913	0.91[EUR][1000 genomes]
rs62088914	0.91[EUR][1000 genomes]
rs62088915	0.96[EUR][1000 genomes]
rs62088917	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62088918	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7236182	1.00[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	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9628000-9642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr18:9630800-9638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9631000-9637000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:9631000-9638800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:9631200-9642000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:9632400-9638200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:9632400-9647600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:9632600-9638600	Weak transcription	HUVEC	blood vessel
9	chr18:9633000-9638400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:9633600-9637200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:9633800-9638400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:9635000-9635600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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