Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
2	chr8:11432287..11434646-chr8:11489007..11491911,2	K562	blood:

Variant related genes	Relation type
ENSG00000170983	Chromatin interaction

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1807593	chr8:11487630-11495441	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv436583	chr8:11489854-11495692	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11482200-11491000	Enhancers	Pancreas	Pancrea
2	chr8:11485000-11491400	Enhancers	Fetal Intestine Small	intestine
3	chr8:11485200-11490800	Enhancers	Liver	Liver
4	chr8:11485200-11491000	Enhancers	Stomach Mucosa	stomach
5	chr8:11485600-11491400	Enhancers	Ovary	ovary
6	chr8:11487600-11491000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:11488400-11490600	Enhancers	Spleen	Spleen
8	chr8:11488400-11490800	Enhancers	Left Ventricle	heart
9	chr8:11488400-11491000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:11488400-11491000	Enhancers	Fetal Kidney	kidney
11	chr8:11488600-11490800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:11488600-11492200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:11488800-11490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:11489600-11490400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr8:11489800-11491800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:11490000-11490400	Weak transcription	Gastric	stomach
17	chr8:11490000-11490400	Weak transcription	Right Ventricle	heart
18	chr8:11490000-11490600	Weak transcription	Right Atrium	heart
19	chr8:11490000-11491000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:11490000-11491200	Enhancers	Fetal Heart	heart
21	chr8:11490000-11494000	Weak transcription	Fetal Intestine Large	intestine
22	chr8:11490200-11491000	Flanking Active TSS	HepG2	liver

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