Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52848459..52850070-chr8:52855590..52857854,2	MCF-7	breast:
2	chr8:52853706..52858045-chr8:52860809..52865433,6	K562	blood:

Variant related genes	Relation type
ENSG00000272024	Chromatin interaction

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17212845	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58991163	0.88[EUR][1000 genomes]

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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2894453	PCMTD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
4	chr8:52850000-52860400	Weak transcription	Right Ventricle	heart
5	chr8:52850200-52860200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:52850200-52868000	Weak transcription	Primary B cells from cord blood	blood
7	chr8:52852000-52870000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:52852200-52858400	Weak transcription	Pancreas	Pancrea
9	chr8:52852200-52858800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:52852200-52859200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:52852200-52859400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:52852200-52866000	Weak transcription	Left Ventricle	heart
13	chr8:52852600-52861000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:52852600-52862400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:52852600-52867600	Weak transcription	Fetal Kidney	kidney
16	chr8:52852800-52861000	Weak transcription	Fetal Stomach	stomach
17	chr8:52852800-52867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:52853600-52859200	Weak transcription	Lung	lung
19	chr8:52854400-52859600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:52856800-52865200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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