Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76584811..76587020-chr1:76588977..76591542,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11162082	0.95[ASN][1000 genomes]
rs11586933	0.95[ASN][1000 genomes]
rs12407026	0.95[ASN][1000 genomes]
rs12407031	0.95[ASN][1000 genomes]
rs12407845	0.95[ASN][1000 genomes]
rs12408886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs158620	1.00[JPT][hapmap]
rs17098119	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs190861	1.00[JPT][hapmap]
rs2631779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2783661	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs289677	1.00[JPT][hapmap]
rs289678	1.00[JPT][hapmap]
rs289687	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs289693	1.00[JPT][hapmap]
rs409245	1.00[JPT][hapmap]
rs491409	1.00[JPT][hapmap]
rs552890	1.00[JPT][hapmap]
rs57217665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs588073	1.00[JPT][hapmap]
rs6657466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6657828	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6664446	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs6673424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6691344	0.95[ASN][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv522056	chr1:76573614-76598209	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:76575400-76606000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:76576400-76587000	Weak transcription	Left Ventricle	heart
5	chr1:76576400-76591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:76576600-76620000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:76577000-76590800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:76579400-76590800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:76579800-76590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:76581000-76586800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:76581800-76596200	Weak transcription	Fetal Intestine Large	intestine
12	chr1:76583400-76590200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:76583600-76589800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:76585800-76588600	Enhancers	Fetal Heart	heart
15	chr1:76586000-76588000	Weak transcription	Psoas Muscle	Psoas
16	chr1:76586200-76587800	Enhancers	Right Atrium	heart
17	chr1:76586400-76588400	Enhancers	Fetal Lung	lung
18	chr1:76586400-76590000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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