Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:33312611..33314569-chr6:33348124..33350169,2	K562	blood:
2	chr6:33306953..33310348-chr6:33311762..33315181,4	K562	blood:
3	chr6:33290770..33293181-chr6:33311818..33314341,3	K562	blood:
4	chr6:33311665..33314646-chr6:33394060..33395716,2	K562	blood:

Variant related genes	Relation type
ENSG00000204209	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs172435	0.90[EUR][1000 genomes]
rs1755038	1.00[ASN][1000 genomes]
rs1755040	1.00[ASN][1000 genomes]
rs1977139	0.93[EUR][1000 genomes]
rs210153	1.00[ASN][1000 genomes]
rs210190	1.00[ASN][1000 genomes]
rs211472	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs213198	1.00[ASN][1000 genomes]
rs2747476	0.91[EUR][1000 genomes]
rs2941555	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106196	1.00[ASN][1000 genomes]
rs3116713	1.00[ASN][1000 genomes]
rs3119026	1.00[ASN][1000 genomes]
rs3130012	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130013	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130023	1.00[ASN][1000 genomes]
rs3130026	1.00[ASN][1000 genomes]
rs3130257	1.00[ASN][1000 genomes]
rs3130258	1.00[ASN][1000 genomes]
rs3130273	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35700288	1.00[ASN][1000 genomes]
rs36003672	1.00[ASN][1000 genomes]
rs395832	0.86[EUR][1000 genomes]
rs406009	0.94[EUR][1000 genomes]
rs449978	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4713634	1.00[ASN][1000 genomes]
rs6910721	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7762843	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	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	nsv969386	chr6:33297665-33325116	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3130104	CDCP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
2	chr6:33312600-33317800	Enhancers	Stomach Mucosa	stomach
3	chr6:33313200-33316800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:33313400-33314200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:33313400-33314400	Weak transcription	Hela-S3	cervix
6	chr6:33313400-33314800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:33313400-33314800	Weak transcription	NHEK	skin
8	chr6:33313400-33315600	Weak transcription	K562	blood
9	chr6:33313400-33317600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:33313600-33314400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:33313600-33314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:33313600-33315400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:33313800-33322000	Weak transcription	Primary T cells from cord blood	blood

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