Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95060837..95062719-chr13:95064854..95066915,2	K562	blood:
2	chr13:95065120..95066896-chr13:95067255..95069081,2	K562	blood:

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13378631	1.00[EUR][1000 genomes]
rs1407993	1.00[EUR][1000 genomes]
rs16949768	1.00[EUR][1000 genomes]
rs1853482	1.00[EUR][1000 genomes]
rs1853483	1.00[EUR][1000 genomes]
rs1886047	1.00[EUR][1000 genomes]
rs7338097	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7992123	1.00[EUR][1000 genomes]
rs8001759	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9584219	1.00[EUR][1000 genomes]
rs9584223	1.00[EUR][1000 genomes]
rs9584224	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9584225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589962	1.00[EUR][1000 genomes]
rs9589963	1.00[EUR][1000 genomes]
rs9589965	1.00[EUR][1000 genomes]
rs9589966	1.00[EUR][1000 genomes]
rs9589968	1.00[EUR][1000 genomes]
rs9589970	1.00[EUR][1000 genomes]
rs9589971	1.00[EUR][1000 genomes]
rs9589973	1.00[EUR][1000 genomes]
rs9589975	1.00[EUR][1000 genomes]
rs9589976	1.00[EUR][1000 genomes]
rs9589978	1.00[EUR][1000 genomes]
rs9589985	1.00[EUR][1000 genomes]
rs9589987	1.00[EUR][1000 genomes]
rs9589990	1.00[EUR][1000 genomes]
rs9589993	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9589995	1.00[EUR][1000 genomes]
rs9590001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9590006	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9590009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9590010	1.00[AMR][1000 genomes];1.00[EUR][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	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95049200-95066800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:95051400-95066800	Weak transcription	Fetal Intestine Large	intestine
3	chr13:95054000-95068200	Weak transcription	Fetal Stomach	stomach
4	chr13:95056600-95072000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:95061800-95066600	Weak transcription	Fetal Intestine Small	intestine
6	chr13:95063800-95065600	Enhancers	Osteobl	bone
7	chr13:95064000-95068600	Enhancers	Fetal Heart	heart
8	chr13:95065000-95065600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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