Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26834747..26837079-chr4:26840083..26841979,2	MCF-7	breast:
2	chr4:26840051..26842840-chr4:26845886..26847935,2	K562	blood:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10489056	1.00[ASN][1000 genomes]
rs17570273	1.00[ASN][1000 genomes]
rs17631961	1.00[ASN][1000 genomes]
rs34086310	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34659543	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61075882	1.00[ASN][1000 genomes]
rs66460756	0.81[AFR][1000 genomes]
rs6853163	1.00[ASN][1000 genomes]
rs7654663	1.00[ASN][1000 genomes]
rs7659660	0.83[AFR][1000 genomes]
rs7670910	1.00[ASN][1000 genomes]
rs7679544	1.00[ASN][1000 genomes]
rs7689377	1.00[ASN][1000 genomes]
rs7700093	1.00[ASN][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	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36053391	RP11-293A21.1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26839200-26843200	Enhancers	Fetal Heart	heart
2	chr4:26839600-26841800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:26839600-26842400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:26839600-26842400	Enhancers	Fetal Muscle Leg	muscle
5	chr4:26840000-26842200	Weak transcription	Fetal Thymus	thymus
6	chr4:26840000-26842400	Enhancers	Fetal Lung	lung
7	chr4:26840000-26858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:26840600-26844200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:26841000-26842800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:26841200-26841800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:26841200-26842000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:26841200-26843400	Enhancers	Thymus	Thymus
13	chr4:26841400-26842200	Weak transcription	Fetal Intestine Large	intestine
14	chr4:26841400-26845400	Weak transcription	Gastric	stomach
15	chr4:26841400-26858600	Weak transcription	Aorta	Aorta
16	chr4:26841600-26842000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:26841600-26842200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:26841600-26842400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:26841600-26843600	Weak transcription	Right Atrium	heart
20	chr4:26841600-26858600	Weak transcription	Muscle Satellite Cultured Cells	--

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