Variant report

Variant	rs7944535
Chromosome Location	chr11:9383450-9383451
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:9381818..9384534-chr11:9384807..9386539,2	MCF-7	breast:
2	chr11:9383299..9385895-chr11:9587946..9590537,2	MCF-7	breast:
3	chr11:9381559..9387995-chr11:9480641..9484889,12	K562	blood:
4	chr11:9331410..9339611-chr11:9380876..9388176,24	K562	blood:
5	chr11:9382569..9389533-chr11:9404674..9410600,16	MCF-7	breast:
6	chr11:9383348..9385949-chr11:9390931..9392449,2	MCF-7	breast:
7	chr11:9285562..9287153-chr11:9383259..9386336,3	K562	blood:
8	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
9	chr11:9331719..9338309-chr11:9381508..9387747,16	K562	blood:
10	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
11	chr11:9335001..9337527-chr11:9383012..9386033,4	MCF-7	breast:
12	chr11:9130567..9133268-chr11:9383092..9385997,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268403	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000166478	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[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10437596	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10437665	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770024	0.85[ASN][1000 genomes]
rs10840218	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840219	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840220	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840222	0.83[ASN][1000 genomes]
rs10840224	0.83[ASN][1000 genomes]
rs11042311	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12291369	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35484677	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243948	0.84[ASN][1000 genomes]
rs4362147	0.84[ASN][1000 genomes]
rs4409822	0.81[ASN][1000 genomes]
rs4471419	0.84[ASN][1000 genomes]
rs4525241	0.81[ASN][1000 genomes]
rs4582976	0.84[ASN][1000 genomes]
rs4625466	0.85[ASN][1000 genomes]
rs4910045	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910046	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910047	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910048	0.98[ASN][1000 genomes]
rs4910049	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910050	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4910458	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910459	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910460	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910461	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7105373	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7115821	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7394742	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7395630	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930205	0.86[ASN][1000 genomes]
rs7946263	0.98[ASN][1000 genomes]
rs7949053	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952145	0.98[ASN][1000 genomes]
rs9971433	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9971484	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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
rs7944535	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9369600-9384000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:9373400-9383800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:9381000-9385400	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:9381200-9385200	Weak transcription	Fetal Lung	lung
5	chr11:9381600-9385400	Enhancers	Placenta	Placenta
6	chr11:9382800-9384000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:9382800-9385600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:9382800-9385600	Enhancers	NHEK	skin
9	chr11:9383000-9383800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:9383000-9383800	Enhancers	K562	blood
11	chr11:9383000-9385200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:9383000-9385400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:9383000-9385400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:9383000-9385400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:9383000-9385400	Enhancers	A549	lung
16	chr11:9383000-9385400	Enhancers	Hela-S3	cervix
17	chr11:9383000-9385400	Enhancers	NHDF-Ad	bronchial
18	chr11:9383000-9385600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:9383000-9385600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:9383000-9385600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:9383000-9385600	Enhancers	HSMM	muscle
22	chr11:9383000-9385600	Enhancers	Osteobl	bone
23	chr11:9383000-9386000	Enhancers	HMEC	breast
24	chr11:9383000-9386200	Enhancers	HUVEC	blood vessel
25	chr11:9383000-9386400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:9383200-9383600	Enhancers	NH-A	brain
27	chr11:9383200-9383800	Enhancers	HepG2	liver
28	chr11:9383200-9385400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:9383200-9385400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:9383200-9385600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:9383200-9385600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:9383200-9386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:9383200-9386600	Enhancers	Fetal Heart	heart
34	chr11:9383400-9384200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:9383400-9384200	Weak transcription	NHLF	lung
36	chr11:9383400-9385400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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