Variant report

Variant	rs59530044
Chromosome Location	chr6:4828997-4828998
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	chr6:4823551..4825869-chr6:4828345..4830418,3	MCF-7	breast:
2	chr6:4818944..4820656-chr6:4826722..4829112,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1016878	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	1.00[AMR][1000 genomes]
rs58938392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	1.00[AMR][1000 genomes]
rs59019088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60161880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60469143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61323400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61657419	0.83[AMR][1000 genomes]
rs73348304	1.00[AMR][1000 genomes]
rs73348324	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	1.00[AMR][1000 genomes]
rs73362552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	1.00[AMR][1000 genomes]
rs73364540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364542	1.00[AMR][1000 genomes]
rs73364544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364545	1.00[AMR][1000 genomes]
rs73364551	1.00[AMR][1000 genomes]
rs73364553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs734783	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
3	chr6:4814200-4829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:4815200-4829600	Weak transcription	Lung	lung
5	chr6:4820400-4844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:4821200-4853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:4828000-4829800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr6:4828200-4830800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:4828400-4829400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:4828600-4829800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:4828600-4830200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr6:4828600-4830400	ZNF genes & repeats	Liver	Liver
13	chr6:4828800-4830000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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