Variant report

Variant	rs72966889
Chromosome Location	chr3:118651891-118651892
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	IRF1	chr3:118651755-118651982	K562	blood:	n/a	chr3:118651798-118651818 chr3:118651800-118651810 chr3:118651807-118651818 chr3:118651802-118651816 chr3:118651800-118651814 chr3:118651806-118651816 chr3:118651792-118651812 chr3:118651806-118651820 chr3:118651796-118651810
2	STAT3	chr3:118651749-118651959	MCF10A-Er-Src	breast:	n/a	chr3:118651806-118651817 chr3:118651869-118651877
3	BATF	chr3:118651641-118651900	GM12878	blood:	n/a	n/a
4	IRF1	chr3:118651635-118651988	K562	blood:	n/a	chr3:118651798-118651818 chr3:118651800-118651810 chr3:118651807-118651818 chr3:118651802-118651816 chr3:118651800-118651814 chr3:118651806-118651816 chr3:118651792-118651812 chr3:118651806-118651820 chr3:118651796-118651810

No.	Distal block	Cell Line	Cell type
1	chr3:118646813..118649066-chr3:118650383..118652184,2	K562	blood:
2	chr3:118651043..118653014-chr3:118655958..118658566,3	K562	blood:
3	chr3:118650890..118655376-chr3:118655958..118658547,6	K562	blood:
4	chr3:118647334..118649178-chr3:118650684..118653485,3	K562	blood:

Variant related genes	Relation type
IGSF11	TF binding region
ENSG00000144847	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10212391	0.84[AFR][1000 genomes]
rs16829165	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160054	0.97[AFR][1000 genomes]
rs41523948	0.85[AFR][1000 genomes]
rs4611809	0.92[AFR][1000 genomes]
rs6785161	0.87[AFR][1000 genomes]
rs6795523	0.86[AFR][1000 genomes]
rs72968610	0.95[AFR][1000 genomes]
rs7629089	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7633584	0.97[AFR][1000 genomes]
rs7644623	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9817943	0.95[AFR][1000 genomes]
rs9834188	0.80[AFR][1000 genomes]
rs9837571	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854240	0.84[AFR][1000 genomes]
rs9861721	0.85[AFR][1000 genomes]
rs9867214	0.95[AFR][1000 genomes]
rs9874337	0.97[AFR][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
2	chr3:118645200-118661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118645400-118652000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:118645800-118661600	Weak transcription	Left Ventricle	heart
5	chr3:118647600-118661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:118649200-118655600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:118651000-118653000	Enhancers	Brain Hippocampus Middle	brain
8	chr3:118651200-118652400	Enhancers	K562	blood
9	chr3:118651200-118652600	Enhancers	Brain Substantia Nigra	brain
10	chr3:118651400-118652000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:118651400-118652000	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr3:118651400-118652200	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr3:118651400-118652400	Enhancers	Brain Angular Gyrus	brain
14	chr3:118651400-118652800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:118651600-118652000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:118651600-118652000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr3:118651600-118652000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:118651600-118652000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr3:118651600-118652000	Active TSS	Osteobl	bone
20	chr3:118651800-118652000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:118651800-118652000	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr3:118651800-118652000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr3:118651800-118652200	Enhancers	Adipose Nuclei	Adipose
24	chr3:118651800-118652200	Enhancers	Ovary	ovary
25	chr3:118651800-118661200	Weak transcription	Right Atrium	heart

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