Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:59377762..59379375-chr1:59386818..59388727,2	K562	blood:
2	chr1:59377084..59380234-chr1:59380830..59384528,3	K562	blood:
3	chr1:59280903..59282902-chr1:59376197..59378473,2	MCF-7	breast:
4	chr1:59245774..59250120-chr1:59377925..59380159,4	K562	blood:
5	chr1:59375398..59378339-chr1:59379792..59381742,2	K562	blood:
6	chr1:59246784..59250688-chr1:59376350..59380858,6	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12071047	0.85[EUR][1000 genomes]
rs12089816	0.85[EUR][1000 genomes]
rs12093908	0.87[EUR][1000 genomes]
rs17096897	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118423	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17118441	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1886744	0.87[EUR][1000 genomes]
rs2764909	0.89[EUR][1000 genomes]
rs35393496	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55834295	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55872264	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56175432	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56219110	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56251271	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56349902	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678885	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678896	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72678899	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678900	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72678901	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72680106	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680107	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72680109	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72680113	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72921571	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59373400-59378000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:59374200-59379800	Enhancers	Fetal Intestine Large	intestine
4	chr1:59374400-59379800	Enhancers	Fetal Intestine Small	intestine
5	chr1:59375800-59379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:59375800-59380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:59376200-59378000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:59376400-59379200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:59376800-59378400	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:59377400-59378000	Enhancers	K562	blood
11	chr1:59377400-59378200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:59377400-59378600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:59377400-59379000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:59377800-59378400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:59377800-59382600	Weak transcription	Placenta Amnion	Placenta Amnion

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