Variant report

Variant	rs10124058
Chromosome Location	chr9:95522882-95522883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95431977..95433901-chr9:95522059..95523716,2	K562	blood:
2	chr9:95521437..95523022-chr9:95523421..95525145,2	MCF-7	breast:
3	chr9:95509829..95511659-chr9:95521369..95523860,2	K562	blood:
4	chr9:95517729..95519725-chr9:95522515..95524617,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10114912	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10114932	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10118939	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10122383	0.92[EUR][1000 genomes]
rs10125587	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491804	0.94[EUR][1000 genomes]
rs10761163	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10820994	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10821008	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992366	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10992393	0.88[EUR][1000 genomes]
rs10992424	0.94[EUR][1000 genomes]
rs10992450	0.92[EUR][1000 genomes]
rs10992457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992471	0.87[ASN][1000 genomes]
rs13284106	0.87[EUR][1000 genomes]
rs13286566	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094281	0.82[AMR][1000 genomes]
rs2296669	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4743875	0.88[EUR][1000 genomes]
rs4743876	0.94[EUR][1000 genomes]
rs4744137	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4744138	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4744141	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744143	0.89[EUR][1000 genomes]
rs6479431	0.93[EUR][1000 genomes]
rs7020104	0.87[EUR][1000 genomes]
rs7029939	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7043984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7046335	0.90[EUR][1000 genomes]
rs724102	0.86[EUR][1000 genomes]
rs747628	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs755209	0.94[EUR][1000 genomes]
rs7847534	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7848399	0.95[ASN][1000 genomes]
rs7852698	0.86[EUR][1000 genomes]
rs7861907	0.95[ASN][1000 genomes]
rs7864575	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7865019	0.82[AMR][1000 genomes]
rs7865118	0.89[EUR][1000 genomes]
rs7869521	0.88[EUR][1000 genomes]
rs7872610	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9299405	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs968040	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs987553	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10124058	CENPP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95503800-95523800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:95512000-95523400	Weak transcription	Aorta	Aorta
3	chr9:95512000-95525000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:95512400-95525200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:95512600-95525400	Weak transcription	A549	lung
6	chr9:95515600-95523600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:95515600-95524800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:95518200-95523400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:95518400-95523000	Weak transcription	Dnd41	blood
10	chr9:95518400-95523400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:95518400-95523600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:95518400-95523600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:95518400-95523600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:95518400-95523600	Weak transcription	Hela-S3	cervix
15	chr9:95518400-95525000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:95518400-95525200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:95518400-95525200	Weak transcription	Fetal Intestine Small	intestine
18	chr9:95518600-95523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:95518600-95524800	Weak transcription	Fetal Lung	lung
20	chr9:95518600-95525200	Weak transcription	Fetal Intestine Large	intestine
21	chr9:95519200-95525200	Enhancers	Fetal Thymus	thymus
22	chr9:95519400-95525200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:95520200-95523200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:95520200-95523400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:95520200-95523400	Weak transcription	K562	blood
26	chr9:95520200-95523600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:95520200-95524000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:95520200-95524000	Weak transcription	Small Intestine	intestine
29	chr9:95520200-95524400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:95520200-95524600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:95520200-95524800	Weak transcription	Psoas Muscle	Psoas
32	chr9:95520400-95523400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:95520400-95524000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:95520400-95525600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:95520400-95526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr9:95521400-95523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:95521400-95523000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:95521400-95523400	Enhancers	GM12878-XiMat	blood
39	chr9:95521400-95524000	Enhancers	Brain Anterior Caudate	brain
40	chr9:95521400-95525000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr9:95521400-95525000	Enhancers	Thymus	Thymus
42	chr9:95521400-95525200	Enhancers	Brain Hippocampus Middle	brain
43	chr9:95521400-95525400	Enhancers	Brain Substantia Nigra	brain
44	chr9:95521600-95523800	Enhancers	Fetal Muscle Leg	muscle
45	chr9:95521600-95524200	Enhancers	Brain Angular Gyrus	brain
46	chr9:95521600-95524800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:95521600-95524800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr9:95521600-95524800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr9:95521600-95524800	Enhancers	Fetal Muscle Trunk	muscle
50	chr9:95521600-95524800	Enhancers	Skeletal Muscle Female	skeletal muscle

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