Variant report

Variant	rs10988784
Chromosome Location	chr9:102140657-102140658
allele	A/C
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	MAFK	chr9:102140586-102140926	HepG2	liver:	n/a	chr9:102140762-102140777 chr9:102140707-102140722
2	MAFK	chr9:102140553-102141169	HepG2	liver:	n/a	chr9:102140762-102140777 chr9:102140707-102140722
3	POLR2A	chr9:102138326-102140784	K562	blood:	n/a	n/a
4	MAFK	chr9:102140556-102141128	IMR90	lung:	n/a	chr9:102140762-102140777 chr9:102140707-102140722
5	MAFF	chr9:102140558-102141179	HepG2	liver:	n/a	chr9:102140705-102140723

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102134969..102136668-chr9:102140239..102142904,2	MCF-7	breast:
2	chr9:102137069..102139229-chr9:102139414..102141097,2	MCF-7	breast:

Variant related genes	Relation type
NAMA	TF binding region
ENSG00000271086	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1002841	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1002842	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1003134	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10819661	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10988785	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10988786	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10988787	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10988791	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10988796	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10988798	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16918546	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16918551	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs379310	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743341	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66709256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs894674	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs920770	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs920771	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs920772	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs920773	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9792547	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1046898	chr9:102111890-102163313	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102132400-102148000	Weak transcription	Psoas Muscle	Psoas
2	chr9:102139200-102146000	Enhancers	HepG2	liver
3	chr9:102139400-102141600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:102139400-102142000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:102140000-102140800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:102140000-102141000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:102140000-102141200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:102140000-102141400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:102140000-102141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:102140200-102140800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:102140200-102140800	Bivalent Enhancer	NHLF	lung
12	chr9:102140200-102141000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:102140200-102141000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:102140200-102141000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:102140200-102141000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:102140200-102141000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr9:102140200-102141000	Enhancers	HSMMtube	muscle
18	chr9:102140200-102141200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:102140200-102141400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:102140200-102141800	Enhancers	Brain Hippocampus Middle	brain
21	chr9:102140400-102140800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:102140400-102141000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:102140400-102141000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:102140600-102141000	Enhancers	Brain Angular Gyrus	brain
25	chr9:102140600-102141000	Enhancers	Brain Substantia Nigra	brain
26	chr9:102140600-102141200	Enhancers	Skeletal Muscle Male	skeletal muscle

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