Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:173501713..173506948-chr2:173507663..173511952,6	K562	blood:
2	chr2:173506570..173508456-chr2:173543074..173545589,2	MCF-7	breast:
3	chr2:173499964..173502739-chr2:173506139..173507845,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228016	Chromatin interaction

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

rs_ID	r²[population]
rs1097474	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1097475	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1097476	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290563	0.92[JPT][hapmap]
rs836602	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836603	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs836605	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836606	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836608	0.92[AFR][1000 genomes]
rs836609	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836610	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs836611	0.97[ASN][1000 genomes]
rs836613	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836614	0.96[AFR][1000 genomes]
rs836615	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836618	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836619	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836621	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836622	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs836623	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs836620	CYBRD1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173494600-173510200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
3	chr2:173505000-173512000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:173505200-173509000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:173505200-173511200	Weak transcription	NHDF-Ad	bronchial
6	chr2:173505400-173512000	Weak transcription	HSMM	muscle
7	chr2:173506600-173509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:173507000-173508600	Enhancers	NHLF	lung
9	chr2:173507000-173510800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:173507200-173508000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:173507200-173509000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:173507400-173508600	Enhancers	HMEC	breast
13	chr2:173507800-173508200	Enhancers	Osteobl	bone
14	chr2:173507800-173508400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:173507800-173508400	Enhancers	K562	blood
16	chr2:173507800-173508600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:173507800-173508600	Enhancers	NH-A	brain
18	chr2:173507800-173508800	Enhancers	NHEK	skin
19	chr2:173507800-173509400	Enhancers	Fetal Stomach	stomach

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