Variant report

Variant	rs58968598
Chromosome Location	chr9:93753669-93753670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93752121..93756766-chr9:93756926..93762091,5	MCF-7	breast:
2	chr9:93726945..93729770-chr9:93753086..93755421,2	MCF-7	breast:
3	chr9:93740191..93743980-chr9:93753139..93756785,4	MCF-7	breast:
4	chr9:93752160..93754281-chr9:93798521..93801349,2	MCF-7	breast:
5	chr9:93676355..93678858-chr9:93753040..93754661,2	MCF-7	breast:
6	chr9:93747037..93749166-chr9:93752714..93754815,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228216	Chromatin interaction
ENSG00000260454	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10123625	1.00[EUR][1000 genomes]
rs10512204	1.00[EUR][1000 genomes]
rs10991749	1.00[EUR][1000 genomes]
rs1460828	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1542478	1.00[EUR][1000 genomes]
rs1585456	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1585459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907076	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907078	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907083	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907088	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16907095	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16907097	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16907114	1.00[EUR][1000 genomes]
rs16907129	1.00[EUR][1000 genomes]
rs1841446	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28406163	1.00[EUR][1000 genomes]
rs28498576	1.00[EUR][1000 genomes]
rs28508244	0.83[ASN][1000 genomes]
rs28548848	1.00[EUR][1000 genomes]
rs28629371	1.00[EUR][1000 genomes]
rs28720686	1.00[EUR][1000 genomes]
rs296729	0.98[ASN][1000 genomes]
rs4991707	1.00[EUR][1000 genomes]
rs55796701	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56046303	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56099287	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56215441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56748053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57600683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57756037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57874603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58087771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58145618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58848158	1.00[EUR][1000 genomes]
rs59262734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59306422	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59874266	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60129254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691320	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60805834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61300432	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61647505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479324	1.00[EUR][1000 genomes]
rs6479326	1.00[EUR][1000 genomes]
rs6479327	1.00[EUR][1000 genomes]
rs7020346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024221	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7025659	1.00[EUR][1000 genomes]
rs7025935	1.00[EUR][1000 genomes]
rs7032345	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7034744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035409	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039162	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039179	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039199	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042483	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7046222	0.92[AFR][1000 genomes]
rs7047670	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492518	0.86[AFR][1000 genomes]
rs73492522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492532	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492544	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73492545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492551	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73505587	1.00[EUR][1000 genomes]
rs73653521	0.94[AFR][1000 genomes]
rs73653522	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73653527	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs751279	1.00[EUR][1000 genomes]
rs753789	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs753790	1.00[EUR][1000 genomes]
rs753791	1.00[EUR][1000 genomes]
rs7852422	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7854507	0.97[AFR][1000 genomes]
rs7854907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855222	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856691	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859976	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867663	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870440	1.00[EUR][1000 genomes]
rs7873869	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr9:93748200-93753800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:93748200-93753800	Weak transcription	Hela-S3	cervix
3	chr9:93748800-93754000	Weak transcription	HUVEC	blood vessel
4	chr9:93750600-93753800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:93750800-93753800	Weak transcription	NHLF	lung
6	chr9:93751000-93753800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:93751000-93753800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:93751000-93753800	Weak transcription	HMEC	breast
9	chr9:93751000-93754000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:93752400-93755200	Enhancers	Liver	Liver
11	chr9:93752600-93753800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:93753600-93753800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:93753600-93754600	Enhancers	A549	lung
14	chr9:93753600-93755000	Enhancers	NHDF-Ad	bronchial

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