Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30072138..30074365-chr6:30079433..30082098,2	K562	blood:
2	chr6:30080946..30082589-chr6:30093243..30095341,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204616	Chromatin interaction
ENSG00000231226	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12175655	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17188015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17188113	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17194460	0.83[EUR][1000 genomes]
rs2074477	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3734837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815081	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41272587	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41272591	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4282437	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56307380	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62390186	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62390202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366753	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366754	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9368622	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9368624	0.83[EUR][1000 genomes]
rs9378220	0.83[EUR][1000 genomes]
rs9380156	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9391677	0.92[AMR][1000 genomes];0.93[EUR][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	nsv884055	chr6:30078275-30087776	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62390201	TRIM26	Cis_1M	lymphoblastoid	RTeQTL
rs62390201	HCG18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30080000-30081800	Enhancers	Liver	Liver
2	chr6:30080200-30082400	Enhancers	HepG2	liver
3	chr6:30080600-30081800	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:30080800-30082800	Enhancers	Fetal Intestine Large	intestine
5	chr6:30080800-30082800	Enhancers	Fetal Intestine Small	intestine
6	chr6:30081200-30082200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:30081200-30082200	Flanking Active TSS	A549	lung
8	chr6:30081200-30082400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:30081400-30081800	Flanking Active TSS	Stomach Mucosa	stomach
10	chr6:30081400-30082000	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:30081400-30082400	Enhancers	Hela-S3	cervix
12	chr6:30081600-30082200	Enhancers	Rectal Mucosa Donor 29	rectum

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