Variant report

Variant	rs7938998
Chromosome Location	chr11:9523744-9523745
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1020622	0.82[EUR][1000 genomes]
rs10770034	0.87[EUR][1000 genomes]
rs10840245	0.87[EUR][1000 genomes]
rs10840253	0.86[EUR][1000 genomes]
rs11042353	0.82[EUR][1000 genomes]
rs11042355	0.82[EUR][1000 genomes]
rs11042356	0.82[EUR][1000 genomes]
rs11042374	0.85[EUR][1000 genomes]
rs11042377	0.87[EUR][1000 genomes]
rs11042393	0.92[EUR][1000 genomes]
rs11042395	0.95[EUR][1000 genomes]
rs11042397	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11601316	0.94[EUR][1000 genomes]
rs12792161	0.89[EUR][1000 genomes]
rs12806418	0.89[EUR][1000 genomes]
rs17258462	0.84[EUR][1000 genomes]
rs2278900	0.90[EUR][1000 genomes]
rs2290424	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2290425	0.96[EUR][1000 genomes]
rs35781320	0.80[EUR][1000 genomes]
rs3763874	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs41369549	0.82[EUR][1000 genomes]
rs4810	0.82[EUR][1000 genomes]
rs4910053	0.93[EUR][1000 genomes]
rs6486359	0.82[EUR][1000 genomes]
rs67548305	0.82[EUR][1000 genomes]
rs7103931	0.81[EUR][1000 genomes]
rs7395411	0.83[EUR][1000 genomes]
rs7483667	0.89[EUR][1000 genomes]
rs7932192	0.81[EUR][1000 genomes]
rs7939724	0.89[AFR][1000 genomes]
rs7944435	0.81[EUR][1000 genomes]
rs7949973	0.82[EUR][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	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
2	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
3	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	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
rs7938998	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	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
8	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
12	chr11:9505200-9525200	Strong transcription	Placenta	Placenta
13	chr11:9506000-9525200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:9506800-9525400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:9506800-9525400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:9507200-9525400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9507200-9525400	Strong transcription	Adipose Nuclei	Adipose
18	chr11:9508800-9525000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:9509200-9525200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:9509200-9525200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:9509200-9525400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:9509200-9525400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:9509200-9525400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:9511400-9524400	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:9511600-9525000	Strong transcription	Ovary	ovary
26	chr11:9511600-9527800	Weak transcription	Hela-S3	cervix
27	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:9511600-9528400	Weak transcription	NHLF	lung
29	chr11:9512200-9525200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:9512200-9525400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:9514400-9525400	Strong transcription	Primary T cells from cord blood	blood
32	chr11:9515200-9525000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:9515400-9525400	Strong transcription	Fetal Thymus	thymus
34	chr11:9515400-9525800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:9515600-9525200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:9515600-9525400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:9515600-9525400	Strong transcription	Stomach Smooth Muscle	stomach
38	chr11:9515600-9525400	Strong transcription	Thymus	Thymus
39	chr11:9515800-9525400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:9515800-9525400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:9515800-9525800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr11:9516000-9525400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:9517200-9525200	Strong transcription	Spleen	Spleen
44	chr11:9517400-9525400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:9518200-9525200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:9518600-9530000	Weak transcription	NHEK	skin
47	chr11:9518800-9534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:9519200-9532000	Weak transcription	NHDF-Ad	bronchial
49	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
50	chr11:9519600-9525800	Strong transcription	Brain Germinal Matrix	brain

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