Variant report

Variant	rs72633026
Chromosome Location	chr8:39958554-39958555
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:39958387-39958828	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:39957259..39959898-chr8:40032883..40035530,2	MCF-7	breast:
2	chr8:39956140..39958982-chr8:39975836..39978547,3	MCF-7	breast:
3	chr8:39958460..39961008-chr8:40021213..40023087,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253381	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10282846	0.97[EUR][1000 genomes]
rs10504015	0.95[EUR][1000 genomes]
rs10504016	0.95[EUR][1000 genomes]
rs10504017	0.95[EUR][1000 genomes]
rs12114041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888751	0.95[EUR][1000 genomes]
rs16888756	0.95[EUR][1000 genomes]
rs16888759	0.95[EUR][1000 genomes]
rs16888767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16888769	0.95[EUR][1000 genomes]
rs16888772	0.95[EUR][1000 genomes]
rs16888778	0.95[EUR][1000 genomes]
rs16888781	0.95[EUR][1000 genomes]
rs16888784	0.95[EUR][1000 genomes]
rs16888789	0.95[EUR][1000 genomes]
rs16888796	0.95[EUR][1000 genomes]
rs16888801	0.95[EUR][1000 genomes]
rs16888804	0.95[EUR][1000 genomes]
rs16888805	0.95[EUR][1000 genomes]
rs16888807	0.95[EUR][1000 genomes]
rs16888813	0.95[EUR][1000 genomes]
rs2013398	0.95[EUR][1000 genomes]
rs28567739	0.97[EUR][1000 genomes]
rs3899741	0.95[EUR][1000 genomes]
rs55644348	0.90[EUR][1000 genomes]
rs55666363	0.95[EUR][1000 genomes]
rs55704370	0.95[EUR][1000 genomes]
rs55809387	0.95[EUR][1000 genomes]
rs55952840	0.95[EUR][1000 genomes]
rs56114060	0.95[EUR][1000 genomes]
rs56132784	0.95[EUR][1000 genomes]
rs56180191	0.95[EUR][1000 genomes]
rs56185250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57027362	0.95[EUR][1000 genomes]
rs57281613	0.95[EUR][1000 genomes]
rs57326886	0.95[EUR][1000 genomes]
rs57611903	0.89[EUR][1000 genomes]
rs57653585	0.95[EUR][1000 genomes]
rs59995728	0.92[EUR][1000 genomes]
rs60223559	0.97[EUR][1000 genomes]
rs60843978	0.95[EUR][1000 genomes]
rs61566582	0.90[EUR][1000 genomes]
rs6990154	0.97[EUR][1000 genomes]
rs6990874	0.97[EUR][1000 genomes]
rs72632070	0.81[EUR][1000 genomes]
rs72632077	0.97[EUR][1000 genomes]
rs72632084	0.97[EUR][1000 genomes]
rs72632085	0.97[EUR][1000 genomes]
rs72632088	0.97[EUR][1000 genomes]
rs72632098	0.97[EUR][1000 genomes]
rs72633009	0.95[EUR][1000 genomes]
rs72633010	1.00[EUR][1000 genomes]
rs72633011	0.95[EUR][1000 genomes]
rs72633012	0.95[EUR][1000 genomes]
rs72633013	0.95[EUR][1000 genomes]
rs72633014	0.95[EUR][1000 genomes]
rs72633015	0.95[EUR][1000 genomes]
rs72633016	0.95[EUR][1000 genomes]
rs72633021	0.95[EUR][1000 genomes]
rs72633023	0.95[EUR][1000 genomes]
rs72633024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72633034	0.95[EUR][1000 genomes]
rs72633036	0.95[EUR][1000 genomes]
rs72633037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72633038	0.95[EUR][1000 genomes]
rs72633040	0.92[EUR][1000 genomes]
rs72633041	0.95[EUR][1000 genomes]
rs72633043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72633044	0.95[EUR][1000 genomes]
rs72633048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72633054	0.95[EUR][1000 genomes]
rs7813461	0.97[EUR][1000 genomes]
rs7822254	0.95[EUR][1000 genomes]
rs7840924	0.95[EUR][1000 genomes]
rs976813	0.95[EUR][1000 genomes]
rs9785157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9785159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9785174	0.95[EUR][1000 genomes]
rs981193	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1034355	chr8:39942179-39961432	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39951000-39958600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:39951000-39968000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:39955400-39959600	Enhancers	Stomach Mucosa	stomach
4	chr8:39956000-39958600	Weak transcription	HUVEC	blood vessel
5	chr8:39956000-39963800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:39957000-39962200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:39957200-39959600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:39957600-39959000	Enhancers	Hela-S3	cervix
9	chr8:39957600-39959400	Weak transcription	Placenta	Placenta
10	chr8:39957600-39961200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:39957800-39960200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:39958000-39958800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:39958000-39961000	Weak transcription	Fetal Intestine Large	intestine
14	chr8:39958000-39961000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:39958000-39961600	Enhancers	A549	lung
16	chr8:39958000-39970800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:39958200-39958800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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