Variant report

Variant	rs73565299
Chromosome Location	chr8:48457990-48457991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48424729..48427909-chr8:48454789..48458165,3	MCF-7	breast:
2	chr8:48456575..48460862-chr8:48649112..48652176,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs16925237	1.00[AMR][1000 genomes]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.87[AFR][1000 genomes]
rs57659543	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61519381	1.00[AMR][1000 genomes]
rs73565212	1.00[AMR][1000 genomes]
rs73565216	1.00[AMR][1000 genomes]
rs73565219	1.00[AMR][1000 genomes]
rs73565220	1.00[AMR][1000 genomes]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.87[AFR][1000 genomes]
rs73565260	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582831	1.00[AMR][1000 genomes]
rs73582835	1.00[AMR][1000 genomes]
rs73582836	1.00[AMR][1000 genomes]
rs73582845	1.00[AMR][1000 genomes]
rs73582848	1.00[AMR][1000 genomes]
rs73582860	1.00[AMR][1000 genomes]
rs73582863	1.00[AMR][1000 genomes]
rs73582864	1.00[AMR][1000 genomes]
rs73582865	1.00[AMR][1000 genomes]
rs73582867	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv971306	chr8:48454066-48460805	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 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	chr8:48447200-48466200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:48452600-48466200	Weak transcription	Aorta	Aorta
3	chr8:48452600-48466400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:48453200-48460400	Weak transcription	NHLF	lung
5	chr8:48453200-48466600	Weak transcription	Ovary	ovary
6	chr8:48453600-48459600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:48455800-48459400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:48455800-48459400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:48456200-48458400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:48456800-48459400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:48456800-48467000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:48457200-48460400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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