Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22997980..23000711-chr20:23001339..23003564,3	K562	blood:

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

rs_ID	r²[population]
rs1211376	0.86[ASN][1000 genomes]
rs1360405	0.86[ASN][1000 genomes]
rs1360406	0.86[ASN][1000 genomes]
rs1360407	0.86[ASN][1000 genomes]
rs1360409	0.86[ASN][1000 genomes]
rs1431678	0.84[ASN][1000 genomes]
rs220987	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs220988	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs220989	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2235953	0.88[CHB][hapmap]
rs2258208	0.82[ASN][1000 genomes]
rs2424498	0.86[ASN][1000 genomes]
rs2424499	0.86[ASN][1000 genomes]
rs2424500	0.86[ASN][1000 genomes]
rs2424501	0.86[ASN][1000 genomes]
rs2424502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746620	0.81[AMR][1000 genomes]
rs2746621	0.81[AMR][1000 genomes]
rs4815170	0.86[ASN][1000 genomes]
rs58357425	0.94[ASN][1000 genomes]
rs61056253	0.84[ASN][1000 genomes]
rs73608985	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22991200-23002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr20:22994400-22999000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr20:22994600-22998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr20:22995600-22999200	Enhancers	Dnd41	blood
5	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:22997600-22998800	Enhancers	Fetal Thymus	thymus
7	chr20:22997600-22998800	Enhancers	Thymus	Thymus
8	chr20:22998000-22999600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr20:22998000-22999600	Weak transcription	Brain Substantia Nigra	brain
10	chr20:22998000-23000800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:22998200-22999000	Enhancers	Brain Cingulate Gyrus	brain
12	chr20:22998400-23000200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:22998400-23001200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:22998600-22998800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr20:22998600-22998800	Enhancers	Brain Hippocampus Middle	brain
16	chr20:22998600-22998800	Enhancers	Fetal Muscle Leg	muscle
17	chr20:22998600-22999000	Enhancers	Brain Angular Gyrus	brain
18	chr20:22998600-22999800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr20:22998600-23001000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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