Variant report

Variant	rs7114824
Chromosome Location	chr11:9439422-9439423
allele	G/T
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	chr11:9439250-9439488	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9336578..9339387-chr11:9437499..9440422,2	K562	blood:
2	chr11:9405441..9408326-chr11:9437351..9440584,3	K562	blood:
3	chr11:9438906..9440744-chr11:9443977..9445733,2	K562	blood:

Variant related genes	Relation type
IPO7	TF binding region
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1020621	0.92[ASN][1000 genomes]
rs1020622	0.92[ASN][1000 genomes]
rs10743107	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770026	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10770028	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10770029	0.97[ASN][1000 genomes]
rs10770032	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770033	0.92[ASN][1000 genomes]
rs10840228	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10840229	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840234	0.94[ASN][1000 genomes]
rs10840235	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840236	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840237	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840238	0.93[ASN][1000 genomes]
rs10840243	0.81[ASN][1000 genomes]
rs11042328	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042329	0.98[ASN][1000 genomes]
rs11042348	0.95[ASN][1000 genomes]
rs11042349	0.90[ASN][1000 genomes]
rs11042350	0.93[ASN][1000 genomes]
rs11042353	0.92[ASN][1000 genomes]
rs11042355	0.92[ASN][1000 genomes]
rs11042356	0.92[ASN][1000 genomes]
rs11042366	0.83[ASN][1000 genomes]
rs11826606	0.87[ASN][1000 genomes]
rs12225755	0.95[ASN][1000 genomes]
rs12271897	0.93[ASN][1000 genomes]
rs12282176	0.92[ASN][1000 genomes]
rs12296039	0.88[ASN][1000 genomes]
rs12790938	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12795344	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12797567	0.95[ASN][1000 genomes]
rs12799672	0.88[ASN][1000 genomes]
rs12800802	0.93[ASN][1000 genomes]
rs2290423	0.89[ASN][1000 genomes]
rs35781320	0.89[ASN][1000 genomes]
rs41369549	0.92[ASN][1000 genomes]
rs4810	0.92[ASN][1000 genomes]
rs6486306	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6486307	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6486359	0.92[ASN][1000 genomes]
rs6486361	0.92[ASN][1000 genomes]
rs67548305	0.92[ASN][1000 genomes]
rs68060819	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7103931	0.82[ASN][1000 genomes]
rs7104568	0.92[ASN][1000 genomes]
rs7115477	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7122252	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7122499	0.81[ASN][1000 genomes]
rs7128033	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7395411	0.90[ASN][1000 genomes]
rs7396544	0.86[ASN][1000 genomes]
rs7480643	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7932192	0.82[ASN][1000 genomes]
rs7944435	0.83[ASN][1000 genomes]
rs7944578	0.85[ASN][1000 genomes]
rs7949973	0.92[ASN][1000 genomes]
rs8785	0.92[ASN][1000 genomes]
rs9667574	0.84[ASN][1000 genomes]
rs9787851	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv976476	chr11:9433496-9441932	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv442218	chr11:9435220-9441409	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7114824	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407600-9442000	Weak transcription	Fetal Brain Male	brain
2	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
5	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:9419800-9444200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:9420000-9440200	Weak transcription	Fetal Kidney	kidney
8	chr11:9420600-9442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:9425600-9446800	Weak transcription	Colonic Mucosa	Colon
20	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:9426200-9471600	Strong transcription	Dnd41	blood
22	chr11:9426400-9443000	Strong transcription	Hela-S3	cervix
23	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:9429800-9443000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:9430400-9457400	Strong transcription	A549	lung
32	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:9431000-9453000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr11:9431200-9443600	Weak transcription	Gastric	stomach
35	chr11:9431600-9449200	Weak transcription	Fetal Heart	heart
36	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
37	chr11:9432800-9441800	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:9432800-9450400	Weak transcription	Spleen	Spleen
39	chr11:9433000-9439800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:9433000-9441600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:9433000-9441600	Weak transcription	Right Ventricle	heart
42	chr11:9433000-9442200	Weak transcription	NHLF	lung
43	chr11:9433000-9446800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:9433000-9449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:9433000-9464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr11:9433200-9441600	Weak transcription	Psoas Muscle	Psoas
47	chr11:9433200-9442000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:9433200-9442600	Weak transcription	Lung	lung
49	chr11:9433200-9443400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:9433200-9443400	Weak transcription	Pancreas	Pancrea

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