Variant report

Variant	rs11921594
Chromosome Location	chr3:118651532-118651533
allele	A/C/G
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	chr3:118651520-118651683	IMR90	lung:	n/a	chr3:118651569-118651580 chr3:118651569-118651580
2	MAFK	chr3:118651509-118651709	HepG2	liver:	n/a	chr3:118651569-118651580 chr3:118651569-118651580

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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10212391	1.00[EUR][1000 genomes]
rs11917872	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11919070	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11922638	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11923296	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11924178	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11925505	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11925585	0.81[AFR][1000 genomes]
rs11928039	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11929112	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34414843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60177242	1.00[EUR][1000 genomes]
rs6762269	1.00[EUR][1000 genomes]
rs6766405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6809801	1.00[EUR][1000 genomes]
rs72953018	1.00[EUR][1000 genomes]
rs72966806	1.00[EUR][1000 genomes]
rs9813328	1.00[EUR][1000 genomes]
rs9834188	1.00[EUR][1000 genomes]
rs9847272	1.00[EUR][1000 genomes]
rs9854240	1.00[EUR][1000 genomes]
rs9860233	1.00[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118620200-118663200	Weak transcription	Pancreas	Pancrea
2	chr3:118643200-118651600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:118645200-118661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:118645400-118652000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:118645800-118661600	Weak transcription	Left Ventricle	heart
6	chr3:118647600-118651600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:118647600-118661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:118648000-118651800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:118649200-118651800	Weak transcription	Ovary	ovary
10	chr3:118649200-118655600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:118651000-118651600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:118651000-118653000	Enhancers	Brain Hippocampus Middle	brain
13	chr3:118651200-118652400	Enhancers	K562	blood
14	chr3:118651200-118652600	Enhancers	Brain Substantia Nigra	brain
15	chr3:118651400-118651600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:118651400-118651600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr3:118651400-118651800	Active TSS	Right Atrium	heart
18	chr3:118651400-118652000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:118651400-118652000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr3:118651400-118652200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr3:118651400-118652400	Enhancers	Brain Angular Gyrus	brain
22	chr3:118651400-118652800	Enhancers	Brain Inferior Temporal Lobe	brain

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