Variant report

Variant	rs10840219
Chromosome Location	chr11:9388289-9388290
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:9384832..9388447-chr11:9401739..9404383,5	MCF-7	breast:
2	chr11:9385882..9388883-chr11:9391804..9395643,5	K562	blood:
3	chr11:9382569..9389533-chr11:9404674..9410600,16	MCF-7	breast:
4	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
5	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:
6	chr11:9384745..9387627-chr11:9387975..9389794,3	K562	blood:
7	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
8	chr11:9387912..9390461-chr11:9419141..9421304,2	K562	blood:
9	chr11:9387928..9389477-chr11:9396814..9399439,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10437595	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10437596	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10437665	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770024	0.87[ASN][1000 genomes]
rs10840218	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10840220	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840222	0.85[ASN][1000 genomes]
rs10840224	0.85[ASN][1000 genomes]
rs11042311	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12291369	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35484677	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4243948	0.86[ASN][1000 genomes]
rs4362147	0.87[ASN][1000 genomes]
rs4409822	0.83[ASN][1000 genomes]
rs4471419	0.87[ASN][1000 genomes]
rs4525241	0.83[ASN][1000 genomes]
rs4582976	0.87[ASN][1000 genomes]
rs4625466	0.87[ASN][1000 genomes]
rs4910045	0.82[EUR][1000 genomes]
rs4910046	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910047	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910048	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4910049	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910050	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910458	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910459	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910460	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910461	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105373	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7115821	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7394742	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7395630	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7930205	0.88[ASN][1000 genomes]
rs7944535	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7946263	1.00[ASN][1000 genomes]
rs7949053	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7952145	0.95[ASN][1000 genomes]
rs9971433	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9971484	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	nsv975322	chr11:9363750-9395226	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10840219	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386600-9388800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9386600-9389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:9386600-9389000	Weak transcription	Fetal Heart	heart
4	chr11:9386600-9389200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:9386800-9388600	Weak transcription	K562	blood
6	chr11:9386800-9388800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:9386800-9388800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:9386800-9388800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:9386800-9389200	Weak transcription	A549	lung
10	chr11:9386800-9391200	Weak transcription	Fetal Brain Male	brain
11	chr11:9386800-9394200	Weak transcription	HepG2	liver
12	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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