Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:143047507..143050166-chr3:143127472..143129524,2	K562	blood:
2	chr3:143047197..143050151-chr3:143065282..143067644,2	K562	blood:
3	chr3:143046217..143048916-chr3:143050759..143052463,2	K562	blood:
4	chr3:143043771..143046677-chr3:143047093..143049794,2	K562	blood:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1501625	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16853409	0.82[CHB][hapmap];0.83[JPT][hapmap];0.86[TSI][hapmap]
rs16853413	0.84[CEU][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs16853457	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16853469	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1875460	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs4839623	0.83[GIH][hapmap];0.84[AMR][1000 genomes]
rs58357314	0.86[EUR][1000 genomes]
rs59195456	0.87[ASN][1000 genomes]
rs6775025	0.84[AMR][1000 genomes]
rs6779058	1.00[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs73144721	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73144722	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73144729	0.84[AMR][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
2	chr3:143033800-143048400	Weak transcription	Fetal Stomach	stomach
3	chr3:143034400-143048600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:143043400-143048400	Weak transcription	Lung	lung
5	chr3:143045600-143050600	Enhancers	Fetal Lung	lung
6	chr3:143046600-143048600	Weak transcription	Adipose Nuclei	Adipose
7	chr3:143046600-143048600	Weak transcription	Brain Anterior Caudate	brain
8	chr3:143046600-143050000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:143046600-143050400	Enhancers	Fetal Kidney	kidney
10	chr3:143046600-143051800	Weak transcription	Dnd41	blood
11	chr3:143046600-143056200	Weak transcription	Primary T cells from cord blood	blood
12	chr3:143046800-143048800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:143047200-143048200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:143047200-143050800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:143047400-143049000	Enhancers	K562	blood
16	chr3:143047400-143049200	Enhancers	Spleen	Spleen
17	chr3:143047400-143050200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:143047400-143050200	Enhancers	Fetal Brain Female	brain
19	chr3:143047600-143049200	Enhancers	Fetal Thymus	thymus
20	chr3:143047600-143051200	Enhancers	NHDF-Ad	bronchial
21	chr3:143047800-143048000	Enhancers	Placenta	Placenta
22	chr3:143047800-143050800	Enhancers	Fetal Brain Male	brain

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