Variant report

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151429979..151432230-chr1:151567637..151569451,3	MCF-7	breast:
2	chr1:151556628..151559025-chr1:151567592..151570969,4	MCF-7	breast:
3	1:151516085-151535167..1:151565791-151575769	H1-hESC	embryonic stem cell:	embryo
4	1:151427826-151434310..1:151565791-151575769	K562	blood:
5	1:151333184-151350267..1:151565791-151575769	GM12878	blood:
6	chr1:151484738..151486460-chr1:151566819..151569782,2	MCF-7	breast:
7	1:151565791-151575769..1:151618750-151636526	K562	blood:
8	1:151254384-151268403..1:151565791-151575769	K562	blood:
9	chr1:151511392..151513624-chr1:151569200..151573110,3	MCF-7	breast:
10	chr1:151568597..151570310-chr1:151583939..151586200,2	MCF-7	breast:
11	chr1:151567685..151569478-chr1:151820200..151821930,2	MCF-7	breast:
12	chr1:151511423..151515808-chr1:151564689..151570634,14	MCF-7	breast:
13	1:151496437-151509688..1:151565791-151575769	K562	blood:
14	chr1:151559403..151561467-chr1:151568084..151570388,2	MCF-7	breast:
15	chr1:151569147..151571647-chr1:151575005..151576628,2	MCF-7	breast:
16	chr1:151568166..151570145-chr8:144355339..144358243,2	MCF-7	breast:
17	1:151411623-151426875..1:151565791-151575769	Hela-S3	cervix:
18	chr1:151569138..151571685-chr1:151583171..151587169,4	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11204859	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196358	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1196360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035531	0.90[EUR][1000 genomes]
rs12130368	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs16833391	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.90[EUR][1000 genomes]
rs1781414	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280474	0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs3748606	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes]
rs3790508	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs4596896	0.96[EUR][1000 genomes]
rs7532867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[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	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151566600-151574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151566800-151572000	Weak transcription	Fetal Heart	heart
4	chr1:151568200-151569600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:151568400-151569800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:151568400-151569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:151568400-151570200	Enhancers	A549	lung
8	chr1:151568600-151569600	Enhancers	HepG2	liver
9	chr1:151568600-151570000	Enhancers	NHEK	skin
10	chr1:151568800-151569400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:151568800-151569400	Enhancers	Placenta	Placenta
12	chr1:151568800-151569800	Flanking Active TSS	Hela-S3	cervix
13	chr1:151568800-151570000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:151569000-151569400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:151569000-151569600	Weak transcription	HMEC	breast
16	chr1:151569200-151569400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:151569200-151569400	Flanking Active TSS	K562	blood
18	chr1:151569200-151569600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:151569200-151569800	Enhancers	NH-A	brain
20	chr1:151569200-151570000	Enhancers	Pancreas	Pancrea
21	chr1:151569400-151570200	Enhancers	K562	blood

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