Variant report

Variant	rs9971433
Chromosome Location	chr11:9385669-9385670
allele	A/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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9334051..9337836-chr11:9384228..9387561,5	MCF-7	breast:
2	chr11:9285276..9286981-chr11:9384842..9387352,3	MCF-7	breast:
3	chr11:9383299..9385895-chr11:9587946..9590537,2	MCF-7	breast:
4	chr11:9384653..9387328-chr11:9479697..9482338,3	MCF-7	breast:
5	chr11:9384097..9385753-chr12:124509844..124511367,2	MCF-7	breast:
6	chr11:9385385..9387133-chr11:9397902..9400068,2	MCF-7	breast:
7	chr11:9381559..9387995-chr11:9480641..9484889,12	K562	blood:
8	chr11:9384832..9388447-chr11:9401739..9404383,5	MCF-7	breast:
9	chr11:9383572..9387718-chr11:9404633..9407849,8	MCF-7	breast:
10	chr10:38043261..38044079-chr11:9385505..9386248,2	NB4	blood:
11	chr11:9385454..9386273-chr12:49658866..49659746,2	Hela-S3	cervix:
12	chr11:9384745..9387627-chr11:9387975..9389794,3	K562	blood:
13	chr11:9331410..9339611-chr11:9380876..9388176,24	K562	blood:
14	chr11:9382569..9389533-chr11:9404674..9410600,16	MCF-7	breast:
15	chr11:9384238..9386288-chr11:9482969..9485060,2	MCF-7	breast:
16	chr11:9383348..9385949-chr11:9390931..9392449,2	MCF-7	breast:
17	chr11:9301124..9302676-chr11:9383482..9385931,2	K562	blood:
18	chr11:9384588..9386310-chr13:24153918..24155432,2	K562	blood:
19	chr11:9285562..9287153-chr11:9383259..9386336,3	K562	blood:
20	chr11:9276841..9278348-chr11:9384168..9386134,2	K562	blood:
21	chr11:9385635..9386490-chr15:65596704..65597261,2	Hela-S3	cervix:
22	chr11:9385285..9386284-chr2:85581210..85581745,2	Hela-S3	cervix:
23	chr11:9385552..9386495-chr11:64879234..64879806,2	HCT-116	colon:
24	chr11:9367453..9371339-chr11:9383916..9387622,3	K562	blood:
25	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
26	chr11:9284716..9287065-chr11:9383893..9385739,2	K562	blood:
27	chr11:9381818..9384534-chr11:9384807..9386539,2	MCF-7	breast:
28	chr11:8729818..8732342-chr11:9384547..9387527,2	MCF-7	breast:
29	chr11:9368736..9371339-chr11:9384685..9387958,4	K562	blood:
30	chr11:9384438..9386089-chr11:9633922..9636673,2	MCF-7	breast:
31	chr11:9331719..9338309-chr11:9381508..9387747,16	K562	blood:
32	chr11:9384654..9388171-chr11:9393379..9396078,3	MCF-7	breast:
33	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
34	chr11:9384002..9387558-chr11:9481143..9484126,7	K562	blood:
35	chr11:9335001..9337527-chr11:9383012..9386033,4	MCF-7	breast:
36	chr11:9130567..9133268-chr11:9383092..9385997,2	MCF-7	breast:
37	chr11:9339910..9342250-chr11:9383907..9387311,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166471	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000115459	Chromatin interaction
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	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10437596	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10437665	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10770024	0.84[ASN][1000 genomes]
rs10840218	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840219	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840220	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840222	0.82[ASN][1000 genomes]
rs10840224	0.82[ASN][1000 genomes]
rs11042311	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12291369	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35484677	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243948	0.83[ASN][1000 genomes]
rs4362147	0.84[ASN][1000 genomes]
rs4409822	0.80[ASN][1000 genomes]
rs4471419	0.84[ASN][1000 genomes]
rs4525241	0.81[ASN][1000 genomes]
rs4582976	0.84[ASN][1000 genomes]
rs4625466	0.84[ASN][1000 genomes]
rs4910045	0.87[EUR][1000 genomes]
rs4910046	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910047	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910048	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4910049	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910050	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4910458	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4910459	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910460	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910461	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7105373	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115821	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7394742	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7395630	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7930205	0.85[ASN][1000 genomes]
rs7944535	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7946263	0.97[ASN][1000 genomes]
rs7949053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952145	0.97[ASN][1000 genomes]
rs9971484	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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
rs9971433	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9383000-9386000	Enhancers	HMEC	breast
2	chr11:9383000-9386200	Enhancers	HUVEC	blood vessel
3	chr11:9383000-9386400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:9383200-9386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:9383200-9386600	Enhancers	Fetal Heart	heart
6	chr11:9383800-9385800	Flanking Active TSS	K562	blood
7	chr11:9383800-9386200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:9383800-9386200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:9384000-9385800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9384000-9386200	Enhancers	NH-A	brain
11	chr11:9384200-9386400	Enhancers	NHLF	lung
12	chr11:9385000-9386600	Active TSS	Brain Germinal Matrix	brain
13	chr11:9385200-9385800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:9385200-9386600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr11:9385400-9385800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:9385400-9385800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:9385400-9385800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:9385400-9385800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:9385400-9385800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:9385400-9385800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:9385400-9385800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:9385400-9385800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:9385400-9385800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr11:9385400-9385800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr11:9385400-9385800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:9385400-9385800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:9385400-9385800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:9385400-9385800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr11:9385400-9385800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:9385400-9385800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:9385400-9385800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:9385400-9385800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:9385400-9385800	Flanking Active TSS	Liver	Liver
34	chr11:9385400-9385800	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr11:9385400-9385800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:9385400-9385800	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr11:9385400-9385800	Flanking Active TSS	Fetal Brain Male	brain
38	chr11:9385400-9385800	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr11:9385400-9385800	Flanking Active TSS	Fetal Lung	lung
40	chr11:9385400-9385800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr11:9385400-9385800	Flanking Active TSS	Fetal Stomach	stomach
42	chr11:9385400-9385800	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:9385400-9385800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr11:9385400-9385800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:9385400-9385800	Flanking Active TSS	GM12878-XiMat	blood
46	chr11:9385400-9385800	Flanking Active TSS	Hela-S3	cervix
47	chr11:9385400-9385800	Flanking Active TSS	HepG2	liver
48	chr11:9385400-9385800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:9385400-9385800	Flanking Active TSS	NHDF-Ad	bronchial
50	chr11:9385400-9386000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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