Variant report

Variant	rs2518117
Chromosome Location	chr9:108324450-108324451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr9:108324387-108324565	MCF10A-Er-Src	breast:	n/a	n/a
2	NFYB	chr9:108324272-108324472	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228317	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1018848	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1018849	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1024366	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10820805	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10820806	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10820807	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10820808	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10820816	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10991661	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10991662	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10991664	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10991666	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10991669	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10991675	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10991680	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10991686	0.80[ASN][1000 genomes]
rs10991688	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11525961	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11535511	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12235779	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12555267	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1327351	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1329021	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1329022	0.90[ASN][1000 genomes]
rs1576285	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16924672	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16924676	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1858744	0.87[ASN][1000 genomes]
rs1928293	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1928294	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2010861	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2068266	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518109	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2518110	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518111	0.90[ASN][1000 genomes]
rs2518113	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2518118	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2518119	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2518122	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2518127	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2518132	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2518133	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2768278	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2768282	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2768284	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2768285	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2768286	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2768287	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2768288	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2768293	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2768295	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2768296	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2904847	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4302902	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56134629	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72744266	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72744269	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs879115	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs879117	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs879118	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs885955	0.83[AMR][1000 genomes];0.91[ASN][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	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321200-108325600	Weak transcription	Left Ventricle	heart
2	chr9:108321200-108335600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:108321400-108324600	Weak transcription	Fetal Kidney	kidney
4	chr9:108321400-108325000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:108321600-108325000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:108321600-108325000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:108321600-108325200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr9:108321600-108325600	Weak transcription	Thymus	Thymus
9	chr9:108321600-108326000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr9:108321600-108326200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr9:108321600-108336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:108321600-108336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:108321600-108336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:108321600-108338000	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:108321600-108353600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:108321600-108354000	Weak transcription	Right Ventricle	heart
17	chr9:108321600-108360200	Weak transcription	HSMM	muscle
18	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:108322000-108325400	ZNF genes & repeats	Fetal Brain Female	brain
20	chr9:108322200-108334600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:108323400-108324800	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr9:108323400-108325400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr9:108323400-108325400	ZNF genes & repeats	Liver	Liver
24	chr9:108323400-108326000	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr9:108323400-108327000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr9:108323600-108325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:108323600-108325600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:108323800-108324600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:108323800-108325200	ZNF genes & repeats	Fetal Heart	heart
30	chr9:108323800-108325400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr9:108323800-108325400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr9:108323800-108325600	ZNF genes & repeats	Fetal Lung	lung
33	chr9:108323800-108325800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr9:108323800-108325800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:108323800-108326000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr9:108324000-108324800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:108324000-108325000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr9:108324000-108325000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:108324000-108325400	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr9:108324000-108325800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr9:108324000-108327200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:108324200-108324600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:108324200-108324800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr9:108324200-108325400	ZNF genes & repeats	A549	lung
45	chr9:108324200-108325400	ZNF genes & repeats	Dnd41	blood
46	chr9:108324200-108325800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:108324400-108324600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:108324400-108324600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr9:108324400-108324600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
50	chr9:108324400-108324600	ZNF genes & repeats	NHLF	lung

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