Variant report

Variant	rs7374385
Chromosome Location	chr3:139118544-139118545
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139107743..139111997-chr3:139116501..139120067,3	K562	blood:

Variant related genes	Relation type
ENSG00000248932	Chromatin interaction
ENSG00000184432	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1044826	0.83[EUR][1000 genomes]
rs10935323	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12488939	0.80[EUR][1000 genomes]
rs12494806	0.82[EUR][1000 genomes]
rs12695698	0.91[EUR][1000 genomes]
rs12695699	0.91[EUR][1000 genomes]
rs13060697	0.92[EUR][1000 genomes]
rs13083195	0.83[EUR][1000 genomes]
rs13085888	0.91[EUR][1000 genomes]
rs13089007	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13089090	0.88[EUR][1000 genomes]
rs13092507	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13092935	0.91[EUR][1000 genomes]
rs1586863	0.93[EUR][1000 genomes]
rs1586864	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17336869	0.88[EUR][1000 genomes]
rs1907687	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2233811	0.87[EUR][1000 genomes]
rs2233815	0.88[EUR][1000 genomes]
rs2349059	0.91[EUR][1000 genomes]
rs34623690	0.86[EUR][1000 genomes]
rs3772877	0.90[EUR][1000 genomes]
rs3772878	0.89[EUR][1000 genomes]
rs3821544	0.88[EUR][1000 genomes]
rs3821545	0.90[EUR][1000 genomes]
rs4544576	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9289578	0.86[EUR][1000 genomes]
rs964227	0.93[EUR][1000 genomes]
rs973691	0.87[EUR][1000 genomes]
rs9812192	0.90[EUR][1000 genomes]
rs9818691	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9825064	0.81[EUR][1000 genomes]
rs9831108	0.92[EUR][1000 genomes]
rs9848241	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs9849039	0.93[EUR][1000 genomes]
rs9849578	0.88[EUR][1000 genomes]
rs9853350	0.89[EUR][1000 genomes]
rs9860201	0.88[EUR][1000 genomes]
rs9868544	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9882014	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139109200-139123400	Weak transcription	Lung	lung
2	chr3:139109400-139123400	Weak transcription	Aorta	Aorta
3	chr3:139109600-139123400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:139109800-139119800	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:139113200-139133000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:139114200-139120000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:139114200-139153800	Weak transcription	Left Ventricle	heart
8	chr3:139117400-139119800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:139118000-139118800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:139118000-139120000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:139118400-139125200	Weak transcription	Brain Angular Gyrus	brain

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