Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44450654..44453609-chr12:44454497..44456502,2	K562	blood:

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

rs_ID	r²[population]
rs10161163	0.83[EUR][1000 genomes]
rs10161301	0.83[EUR][1000 genomes]
rs10506233	1.00[CHB][hapmap]
rs11182363	1.00[CHB][hapmap]
rs11182371	1.00[CHB][hapmap]
rs11182376	1.00[CHB][hapmap]
rs11182389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11182401	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12099550	1.00[CHB][hapmap]
rs12296939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12297529	1.00[CHB][hapmap]
rs12303163	1.00[CHB][hapmap]
rs12306873	1.00[CHB][hapmap]
rs12307644	1.00[CHB][hapmap]
rs12308508	1.00[CHB][hapmap]
rs12308564	1.00[CHB][hapmap]
rs12308750	1.00[CHB][hapmap]
rs12309408	1.00[CHB][hapmap]
rs12310801	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12311153	1.00[CHB][hapmap]
rs12319385	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12319439	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12319776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12320155	1.00[CHB][hapmap]
rs12321149	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12321287	0.83[AFR][1000 genomes]
rs1388775	1.00[CHB][hapmap]
rs1406786	1.00[CHB][hapmap]
rs17094016	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1731424	1.00[CHB][hapmap]
rs2699993	1.00[CEU][hapmap]
rs7956766	1.00[CHB][hapmap]
rs7969724	1.00[CHB][hapmap]

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44439200-44464400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44447000-44459800	Weak transcription	Gastric	stomach
3	chr12:44453000-44456400	Weak transcription	Psoas Muscle	Psoas
4	chr12:44454000-44470400	Weak transcription	Fetal Brain Female	brain

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