Variant report

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17050186	0.81[LWK][hapmap]
rs41427648	1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41459645	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58424012	1.00[AMR][1000 genomes]

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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs41537445	SIX3	trans	lymphoblastoid	seeQTL
rs41537445	ABP1	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119910400-119931000	Weak transcription	Right Atrium	heart
2	chr4:119917600-119931000	Weak transcription	Aorta	Aorta
3	chr4:119917600-119932200	Weak transcription	Left Ventricle	heart
4	chr4:119922400-119930600	Weak transcription	Fetal Heart	heart
5	chr4:119922400-119933200	Weak transcription	Psoas Muscle	Psoas
6	chr4:119925000-119932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:119925200-119928600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:119925200-119929600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:119925400-119928800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:119925400-119929200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr4:119927000-119929000	Enhancers	Fetal Lung	lung
12	chr4:119927000-119929600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:119927200-119928000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:119927200-119928000	Enhancers	Fetal Stomach	stomach
15	chr4:119927200-119930400	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:119927400-119931600	Weak transcription	Right Ventricle	heart
17	chr4:119927400-119932200	Weak transcription	Ovary	ovary
18	chr4:119927400-119932200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:119927400-119932800	Enhancers	Colon Smooth Muscle	Colon
20	chr4:119927600-119932200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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