Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:21227457..21230261-chr2:21231095..21233921,3	K562	blood:
2	chr2:21224463..21227068-chr2:21229153..21232894,3	K562	blood:
3	chr2:21224463..21226002-chr2:21230053..21232894,2	K562	blood:

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

rs_ID	r²[population]
rs10199768	0.87[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs10205849	0.81[YRI][hapmap]
rs1041968	0.95[ASN][1000 genomes]
rs10495712	0.83[ASN][1000 genomes]
rs12713554	0.88[YRI][hapmap]
rs1317821	0.85[AFR][1000 genomes]
rs13392272	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1469513	1.00[ASW][hapmap];0.87[LWK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs17397667	0.83[ASN][1000 genomes]
rs2337381	0.83[ASN][1000 genomes]
rs55938327	0.83[ASN][1000 genomes]
rs56142315	0.83[ASN][1000 genomes]
rs62120837	0.83[ASN][1000 genomes]
rs62120838	0.83[ASN][1000 genomes]
rs62120842	0.83[ASN][1000 genomes]
rs62120843	0.83[ASN][1000 genomes]
rs62120847	0.83[ASN][1000 genomes]
rs62120852	0.83[ASN][1000 genomes]
rs62122481	0.85[ASN][1000 genomes]
rs68093099	0.83[ASN][1000 genomes]
rs938848	0.83[ASN][1000 genomes]
rs952275	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	esv3446962	chr2:21231647-21236245	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

Variant related diseases (count:6)

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21222800-21234600	Weak transcription	Adipose Nuclei	Adipose
2	chr2:21223200-21245600	Strong transcription	Liver	Liver
3	chr2:21225600-21236400	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr2:21229600-21232200	Strong transcription	HepG2	liver
5	chr2:21230400-21234000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:21230800-21235000	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr2:21231600-21232400	ZNF genes & repeats	Left Ventricle	heart
8	chr2:21231800-21232400	ZNF genes & repeats	Aorta	Aorta
9	chr2:21232000-21232400	Active TSS	Brain Substantia Nigra	brain

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