Variant report

Variant	rs11042311
Chromosome Location	chr11:9385906-9385907
allele	A/G
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9334051..9337836-chr11:9384228..9387561,5	MCF-7	breast:
2	chr11:9385773..9387621-chr11:9390290..9392056,4	K562	blood:
3	chr11:9285276..9286981-chr11:9384842..9387352,3	MCF-7	breast:
4	chr11:9385802..9387665-chr11:9394005..9395643,2	K562	blood:
5	chr11:9384653..9387328-chr11:9479697..9482338,3	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	chr11:9385882..9388883-chr11:9391804..9395643,5	K562	blood:
14	chr11:9331410..9339611-chr11:9380876..9388176,24	K562	blood:
15	chr1:16840562..16841097-chr11:9385728..9386518,2	HCT-116	colon:
16	chr11:9385849..9386384-chr12:52453312..52454000,2	Hela-S3	cervix:
17	chr11:9385694..9386623-chr11:9406252..9407159,2	Hela-S3	cervix:
18	chr11:9382569..9389533-chr11:9404674..9410600,16	MCF-7	breast:
19	chr11:9384238..9386288-chr11:9482969..9485060,2	MCF-7	breast:
20	chr11:9383348..9385949-chr11:9390931..9392449,2	MCF-7	breast:
21	chr11:9301124..9302676-chr11:9383482..9385931,2	K562	blood:
22	chr11:9384588..9386310-chr13:24153918..24155432,2	K562	blood:
23	chr11:9285562..9287153-chr11:9383259..9386336,3	K562	blood:
24	chr11:9276841..9278348-chr11:9384168..9386134,2	K562	blood:
25	chr11:9385635..9386490-chr15:65596704..65597261,2	Hela-S3	cervix:
26	chr11:9385285..9386284-chr2:85581210..85581745,2	Hela-S3	cervix:
27	chr11:9385552..9386495-chr11:64879234..64879806,2	HCT-116	colon:
28	chr11:9367453..9371339-chr11:9383916..9387622,3	K562	blood:
29	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
30	chr11:9381818..9384534-chr11:9384807..9386539,2	MCF-7	breast:
31	chr11:8729818..8732342-chr11:9384547..9387527,2	MCF-7	breast:
32	chr11:9368736..9371339-chr11:9384685..9387958,4	K562	blood:
33	chr11:9385789..9386480-chr22:29195988..29196632,2	Hela-S3	cervix:
34	chr11:9384438..9386089-chr11:9633922..9636673,2	MCF-7	breast:
35	chr11:9331719..9338309-chr11:9381508..9387747,16	K562	blood:
36	chr11:9384654..9388171-chr11:9393379..9396078,3	MCF-7	breast:
37	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
38	chr11:9384002..9387558-chr11:9481143..9484126,7	K562	blood:
39	chr11:9335001..9337527-chr11:9383012..9386033,4	MCF-7	breast:
40	chr11:9130567..9133268-chr11:9383092..9385997,2	MCF-7	breast:
41	chr11:9339910..9342250-chr11:9383907..9387311,3	K562	blood:
42	chr11:9385832..9386522-chr13:24153434..24154417,3	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000115459	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000127863	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000254884	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000206652	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10437595	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10437596	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10437665	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10770024	0.81[ASN][1000 genomes]
rs10840218	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840219	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10840220	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12291369	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35484677	0.91[ASN][1000 genomes]
rs4625466	0.81[ASN][1000 genomes]
rs4910045	0.85[EUR][1000 genomes]
rs4910046	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910047	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910048	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4910049	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910050	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4910458	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4910459	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910460	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910461	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105373	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115821	0.90[ASN][1000 genomes]
rs7394742	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7395630	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930205	0.81[ASN][1000 genomes]
rs7944535	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7946263	0.93[ASN][1000 genomes]
rs7949053	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7952145	0.93[ASN][1000 genomes]
rs9971433	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9971484	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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
rs11042311	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 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	chr11:9383800-9386200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:9383800-9386200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:9384000-9386200	Enhancers	NH-A	brain
9	chr11:9384200-9386400	Enhancers	NHLF	lung
10	chr11:9385000-9386600	Active TSS	Brain Germinal Matrix	brain
11	chr11:9385200-9386600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr11:9385400-9386000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:9385400-9386000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr11:9385400-9386000	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr11:9385400-9386000	Flanking Active TSS	Placenta	Placenta
16	chr11:9385400-9386000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:9385400-9386200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:9385400-9386400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:9385400-9386400	Active TSS	Fetal Brain Female	brain
20	chr11:9385400-9386600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr11:9385400-9386600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:9385400-9386600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:9385400-9386600	Active TSS	Brain Angular Gyrus	brain
24	chr11:9385400-9386600	Active TSS	Brain Cingulate Gyrus	brain
25	chr11:9385400-9386600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:9385400-9386600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:9385400-9386600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:9385400-9386600	Flanking Active TSS	Fetal Thymus	thymus
29	chr11:9385400-9386600	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:9385400-9386600	Flanking Active TSS	A549	lung
31	chr11:9385400-9386800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:9385400-9386800	Flanking Active TSS	Dnd41	blood
33	chr11:9385600-9386000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr11:9385600-9386200	Active TSS	Primary T cells from cord blood	blood
35	chr11:9385600-9386200	Active TSS	Primary hematopoietic stem cells	blood
36	chr11:9385600-9386200	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr11:9385600-9386200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:9385600-9386200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:9385600-9386200	Active TSS	Spleen	Spleen
40	chr11:9385600-9386400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr11:9385600-9386400	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:9385600-9386400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:9385600-9386400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:9385600-9386400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr11:9385600-9386400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:9385600-9386400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:9385600-9386400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:9385600-9386400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:9385600-9386400	Active TSS	Brain Hippocampus Middle	brain
50	chr11:9385600-9386400	Active TSS	Ovary	ovary

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