Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139481022..139483943-chr3:139485474..139488323,2	K562	blood:

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11927123	0.84[AFR][1000 genomes]
rs1374826	0.87[AFR][1000 genomes]
rs1374827	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1447715	0.82[AFR][1000 genomes]
rs1447716	0.84[AFR][1000 genomes]
rs1447717	0.84[AFR][1000 genomes]
rs4082117	0.88[EUR][1000 genomes]
rs4267617	0.82[EUR][1000 genomes]
rs4683432	0.83[AFR][1000 genomes]
rs4683687	0.82[EUR][1000 genomes]
rs4683698	0.84[AFR][1000 genomes]
rs4683699	0.84[AFR][1000 genomes]
rs6773396	0.87[AFR][1000 genomes]
rs6777057	0.85[AFR][1000 genomes]
rs6794429	0.82[EUR][1000 genomes]
rs6805798	0.82[EUR][1000 genomes]
rs6809271	0.87[AFR][1000 genomes]
rs7611984	0.85[AFR][1000 genomes]
rs7621180	0.84[AFR][1000 genomes]
rs9827130	0.83[AFR][1000 genomes]
rs9832241	0.81[AFR][1000 genomes]
rs9832254	0.81[AFR][1000 genomes]
rs9838068	0.84[AFR][1000 genomes]
rs9838576	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9839329	0.84[AFR][1000 genomes]
rs9843472	0.88[EUR][1000 genomes]
rs9847705	0.87[AFR][1000 genomes]
rs9858180	0.84[AFR][1000 genomes]
rs9863263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9864599	0.83[AFR][1000 genomes]
rs9869310	0.82[EUR][1000 genomes]
rs9876670	0.81[AMR][1000 genomes];0.93[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	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
2	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
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139478200-139483200	Weak transcription	Right Ventricle	heart
2	chr3:139478400-139482400	Weak transcription	Left Ventricle	heart
3	chr3:139478400-139482400	Weak transcription	NHLF	lung
4	chr3:139478400-139483800	Weak transcription	Right Atrium	heart
5	chr3:139478800-139482200	Weak transcription	NH-A	brain
6	chr3:139478800-139483000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:139479600-139481600	Weak transcription	Liver	Liver
8	chr3:139480600-139483200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:139481000-139481600	Enhancers	Fetal Muscle Leg	muscle
10	chr3:139481000-139481600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:139481000-139484000	Enhancers	Fetal Heart	heart
12	chr3:139481000-139484600	Enhancers	HSMMtube	muscle
13	chr3:139481200-139481400	Enhancers	Ovary	ovary
14	chr3:139481200-139481600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:139481200-139481600	Enhancers	Fetal Muscle Trunk	muscle
16	chr3:139481200-139481800	Enhancers	Adipose Nuclei	Adipose
17	chr3:139481200-139485000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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