Variant report

Variant	rs7027445
Chromosome Location	chr9:116069335-116069336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116064327..116066075-chr9:116067719..116071203,3	MCF-7	breast:
2	chr9:116068063..116070072-chr9:116225763..116227656,2	MCF-7	breast:
3	chr9:116056474..116058317-chr9:116067548..116069839,2	K562	blood:
4	chr9:116068586..116075781-chr9:116167998..116173640,10	MCF-7	breast:
5	chr9:116069305..116071615-chr9:116169344..116170916,2	MCF-7	breast:
6	chr9:116068239..116070626-chr9:116128043..116129865,2	MCF-7	breast:
7	chr9:116069178..116072115-chr9:116101600..116103564,2	MCF-7	breast:
8	chr9:116040712..116042373-chr9:116068630..116071458,2	K562	blood:
9	chr9:115981707..115983600-chr9:116067102..116069964,2	MCF-7	breast:
10	chr9:116069029..116071516-chr9:116170931..116173810,3	MCF-7	breast:
11	chr9:116068116..116070060-chr9:116164564..116167189,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119321	Chromatin interaction
ENSG00000148225	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000138835	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000136875	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10481639	0.93[EUR][1000 genomes]
rs10817480	0.93[EUR][1000 genomes]
rs10981726	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10981731	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10981733	0.97[EUR][1000 genomes]
rs10981740	0.93[EUR][1000 genomes]
rs10981741	0.93[EUR][1000 genomes]
rs10981742	0.93[EUR][1000 genomes]
rs10981743	0.93[EUR][1000 genomes]
rs10981744	0.93[EUR][1000 genomes]
rs10981745	0.93[EUR][1000 genomes]
rs10981746	0.93[EUR][1000 genomes]
rs10981747	0.93[EUR][1000 genomes]
rs10981748	0.93[EUR][1000 genomes]
rs10981750	0.92[EUR][1000 genomes]
rs10981751	0.93[EUR][1000 genomes]
rs10981752	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10981760	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12006029	0.93[EUR][1000 genomes]
rs12337552	0.97[EUR][1000 genomes]
rs12338029	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12339382	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12344170	0.93[EUR][1000 genomes]
rs12344525	0.93[EUR][1000 genomes]
rs12351134	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12351296	0.93[EUR][1000 genomes]
rs12351630	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13440199	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1543535	0.93[EUR][1000 genomes]
rs16932583	0.97[EUR][1000 genomes]
rs16932649	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17764563	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28495580	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28607343	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41276795	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4324980	0.93[EUR][1000 genomes]
rs4437724	0.93[EUR][1000 genomes]
rs4442214	0.87[EUR][1000 genomes]
rs4445296	0.93[EUR][1000 genomes]
rs4560870	0.92[EUR][1000 genomes]
rs4636275	0.93[EUR][1000 genomes]
rs5012573	0.97[EUR][1000 genomes]
rs60528957	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66649870	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67292897	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7025347	0.93[EUR][1000 genomes]
rs7041782	0.93[EUR][1000 genomes]
rs7863485	0.93[EUR][1000 genomes]
rs7865438	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7875945	0.97[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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7027445	BSPRY	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116055200-116085200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:116056000-116087000	Weak transcription	Thymus	Thymus
3	chr9:116062600-116075600	Weak transcription	Placenta	Placenta
4	chr9:116065400-116086800	Weak transcription	Gastric	stomach
5	chr9:116065600-116079000	Weak transcription	Fetal Intestine Small	intestine
6	chr9:116065600-116083400	Weak transcription	Esophagus	oesophagus
7	chr9:116065800-116069800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:116066000-116069800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:116068400-116070200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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