Variant report

Variant	rs11042350
Chromosome Location	chr11:9453209-9453210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9451258..9454317-chr11:9478650..9481134,3	K562	blood:
2	chr11:9186906..9189002-chr11:9452951..9454977,2	K562	blood:
3	chr11:9452725..9455212-chr11:9482880..9484498,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1020621	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1020622	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10743107	0.91[ASN][1000 genomes]
rs10770028	0.84[GIH][hapmap];0.90[ASN][1000 genomes]
rs10770029	0.90[ASN][1000 genomes]
rs10770032	0.82[GIH][hapmap];0.91[ASN][1000 genomes]
rs10770033	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10770034	0.83[ASN][1000 genomes]
rs10770037	0.80[CEU][hapmap];0.87[MEX][hapmap]
rs10840228	0.90[ASN][1000 genomes]
rs10840234	0.87[ASN][1000 genomes]
rs10840235	0.84[GIH][hapmap];0.92[ASN][1000 genomes]
rs10840236	0.94[ASN][1000 genomes]
rs10840237	0.99[ASN][1000 genomes]
rs10840238	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840241	0.86[ASN][1000 genomes]
rs10840243	0.92[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840244	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840245	0.86[ASN][1000 genomes]
rs10840247	0.84[ASN][1000 genomes]
rs11042328	0.84[GIH][hapmap];0.90[ASN][1000 genomes]
rs11042329	0.90[ASN][1000 genomes]
rs11042348	0.98[ASN][1000 genomes]
rs11042349	0.95[ASN][1000 genomes]
rs11042353	0.99[ASN][1000 genomes]
rs11042355	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11042356	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11042366	0.96[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042374	0.83[ASN][1000 genomes]
rs11042377	0.86[ASN][1000 genomes]
rs11042395	0.81[ASN][1000 genomes]
rs11826606	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12225755	0.94[ASN][1000 genomes]
rs12271897	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282176	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12296039	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12792161	0.84[ASN][1000 genomes]
rs12795344	0.84[GIH][hapmap];0.90[ASN][1000 genomes]
rs12797567	0.98[ASN][1000 genomes]
rs12799672	0.87[ASN][1000 genomes]
rs12800802	0.98[ASN][1000 genomes]
rs12806418	0.84[ASN][1000 genomes]
rs1377667	0.81[ASN][1000 genomes]
rs1470896	0.81[ASN][1000 genomes]
rs1543	0.81[ASN][1000 genomes]
rs1968717	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278900	0.84[ASN][1000 genomes]
rs2290423	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290425	0.81[ASN][1000 genomes]
rs35781320	0.96[ASN][1000 genomes]
rs3763873	0.87[CEU][hapmap];0.86[GIH][hapmap]
rs3763877	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41369549	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4810	0.99[ASN][1000 genomes]
rs4910048	0.86[GIH][hapmap]
rs4910468	0.81[ASN][1000 genomes]
rs6486306	0.87[ASN][1000 genomes]
rs6486307	0.84[GIH][hapmap];0.89[ASN][1000 genomes]
rs6486359	0.99[ASN][1000 genomes]
rs6486361	0.99[ASN][1000 genomes]
rs6486394	0.81[ASN][1000 genomes]
rs67548305	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs68060819	0.83[ASN][1000 genomes]
rs7102473	0.86[ASN][1000 genomes]
rs7103931	0.89[ASN][1000 genomes]
rs7104568	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7114824	0.93[ASN][1000 genomes]
rs7115477	0.84[GIH][hapmap]
rs7122252	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122499	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs723297	0.81[ASN][1000 genomes]
rs727405	0.88[CEU][hapmap];0.86[GIH][hapmap]
rs729313	0.84[ASN][1000 genomes]
rs7395411	0.97[ASN][1000 genomes]
rs7480643	0.82[GIH][hapmap]
rs7483667	0.83[ASN][1000 genomes]
rs7926589	0.92[CEU][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];0.81[ASN][1000 genomes]
rs7927350	0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7928823	0.84[ASN][1000 genomes]
rs7928945	0.86[ASN][1000 genomes]
rs7932192	0.89[ASN][1000 genomes]
rs7933621	0.86[ASN][1000 genomes]
rs7939724	0.80[CEU][hapmap];0.87[MEX][hapmap]
rs7944435	0.89[ASN][1000 genomes]
rs7944578	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7949973	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8785	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9667574	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs972594	0.81[ASN][1000 genomes]
rs9787851	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042350	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	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:9426200-9471600	Strong transcription	Dnd41	blood
15	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:9430400-9457400	Strong transcription	A549	lung
23	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
25	chr11:9433000-9464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:9434800-9470400	Strong transcription	Osteobl	bone
27	chr11:9435400-9466600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:9439400-9468200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:9439600-9467600	Strong transcription	Placenta	Placenta
31	chr11:9439600-9468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:9439600-9472000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:9439800-9467000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:9439800-9468200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:9439800-9470200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:9439800-9470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:9440000-9465600	Strong transcription	NH-A	brain
38	chr11:9440000-9466200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:9440000-9470800	Strong transcription	Fetal Thymus	thymus
40	chr11:9440200-9466600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:9440200-9468200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:9440200-9468400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:9440200-9470400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr11:9441600-9466800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:9441600-9468200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:9441800-9465400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr11:9442000-9466800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:9443600-9454800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:9443600-9465600	Strong transcription	Brain Anterior Caudate	brain
50	chr11:9443600-9470200	Strong transcription	HSMM	muscle

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