Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:50583393..50583904-chr2:191472387..191473267,2	Hela-S3	cervix:

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13003362	1.00[ASN][1000 genomes]
rs34447464	0.87[ASN][1000 genomes]
rs34529961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35225524	0.82[ASN][1000 genomes]
rs3811610	0.82[ASN][1000 genomes]
rs59629752	0.87[ASN][1000 genomes]
rs60668509	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
2	chr2:191468000-191473200	Enhancers	Fetal Heart	heart
3	chr2:191470400-191473800	Enhancers	K562	blood
4	chr2:191470400-191480400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:191470600-191473400	Enhancers	HMEC	breast
6	chr2:191471600-191473200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:191472600-191473200	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:191472600-191473200	Active TSS	Brain Substantia Nigra	brain
9	chr2:191472600-191473400	Active TSS	Brain Angular Gyrus	brain
10	chr2:191472600-191473400	Active TSS	Brain Hippocampus Middle	brain
11	chr2:191472800-191473200	Active TSS	Brain Anterior Caudate	brain
12	chr2:191472800-191473600	Flanking Active TSS	A549	lung
13	chr2:191473000-191473200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr2:191473000-191473400	Flanking Active TSS	Hela-S3	cervix
15	chr2:191473000-191473400	Enhancers	NH-A	brain
16	chr2:191473000-191473400	Enhancers	Osteobl	bone
17	chr2:191473000-191474800	Enhancers	Fetal Intestine Small	intestine
18	chr2:191473000-191476200	Weak transcription	NHEK	skin
19	chr2:191473000-191476400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:191473000-191476400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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