Variant report

Variant	rs17258462
Chromosome Location	chr11:9540323-9540324
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9537808..9540445-chr11:9593472..9596281,2	K562	blood:
2	chr11:9537904..9540865-chr11:9540885..9544510,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1020622	0.81[AMR][1000 genomes]
rs10770034	0.81[AMR][1000 genomes]
rs10840245	0.83[AMR][1000 genomes]
rs11042353	0.85[AMR][1000 genomes]
rs11042374	0.83[AMR][1000 genomes]
rs11042377	0.82[AMR][1000 genomes]
rs11042393	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11042395	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11042397	0.85[EUR][1000 genomes]
rs11601316	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12792161	0.81[EUR][1000 genomes]
rs12806418	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2278900	0.80[AMR][1000 genomes]
rs2290424	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2290425	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3763874	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41369549	0.81[AMR][1000 genomes]
rs4810	0.84[AMR][1000 genomes]
rs4910053	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7104568	0.81[CEU][hapmap]
rs7395411	0.83[AMR][1000 genomes]
rs7928945	0.80[AMR][1000 genomes]
rs7938998	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17258462	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:9521000-9545200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:9523400-9550800	Weak transcription	Colonic Mucosa	Colon
5	chr11:9523400-9551000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9528800-9550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:9529200-9550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:9530000-9541000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:9530200-9541400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:9530200-9541400	Strong transcription	Adipose Nuclei	Adipose
11	chr11:9530200-9544600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:9530200-9551000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:9531000-9550800	Weak transcription	Pancreas	Pancrea
14	chr11:9532600-9546400	Weak transcription	Stomach Mucosa	stomach
15	chr11:9533400-9541600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:9533400-9550600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:9533600-9541200	Strong transcription	Primary B cells from cord blood	blood
18	chr11:9533600-9541400	Strong transcription	Primary T cells from cord blood	blood
19	chr11:9534000-9541600	Strong transcription	Liver	Liver
20	chr11:9534000-9543800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:9534000-9544600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:9534600-9545800	Weak transcription	Fetal Heart	heart
23	chr11:9534600-9546800	Weak transcription	Gastric	stomach
24	chr11:9534600-9556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:9535000-9548400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:9535000-9548800	Weak transcription	NHEK	skin
27	chr11:9535200-9541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:9535200-9548800	Weak transcription	Fetal Brain Male	brain
29	chr11:9535200-9551200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:9535400-9550800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:9535800-9548600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:9535800-9549000	Weak transcription	Aorta	Aorta
33	chr11:9535800-9550800	Weak transcription	Esophagus	oesophagus
34	chr11:9535800-9554800	Weak transcription	Ovary	ovary
35	chr11:9536000-9543400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:9536200-9550600	Weak transcription	HSMMtube	muscle
37	chr11:9536200-9552400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:9536400-9540400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:9536400-9554800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:9537000-9541200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:9537400-9541000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:9537400-9551200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:9538000-9543400	Weak transcription	Thymus	Thymus
44	chr11:9538000-9546800	Weak transcription	Lung	lung
45	chr11:9538000-9550800	Weak transcription	Right Ventricle	heart
46	chr11:9538200-9540600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:9538200-9545600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:9538200-9545800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr11:9538200-9546800	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:9538200-9547400	Weak transcription	Spleen	Spleen

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