Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31166197..31167896-chr22:31176157..31178787,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

rSNPs within LD-proxies of this variant (count:5)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs136303	DUSP18	Cis_1M	lymphoblastoid	RTeQTL
rs136303	DUSP18	cis	Whole Blood	GTEx
rs136303	CTA-963H5.5	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
2	chr22:31168000-31185400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:31172800-31189400	Weak transcription	Fetal Heart	heart
4	chr22:31173800-31181600	Weak transcription	Spleen	Spleen
5	chr22:31173800-31198200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:31174600-31179800	Weak transcription	Fetal Intestine Small	intestine
7	chr22:31176000-31180400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:31177000-31178600	Enhancers	HSMM	muscle
9	chr22:31177200-31179000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:31177200-31179200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:31177400-31179200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:31177600-31182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:31177800-31178800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:31177800-31180200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:31177800-31185800	Weak transcription	HSMMtube	muscle
16	chr22:31178000-31179000	Weak transcription	NHEK	skin
17	chr22:31178400-31178800	Weak transcription	HMEC	breast
18	chr22:31178400-31179000	Enhancers	Stomach Mucosa	stomach
19	chr22:31178400-31179000	Bivalent Enhancer	HepG2	liver
20	chr22:31178400-31180600	Enhancers	A549	lung

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