Variant report

Variant	rs4528141
Chromosome Location	chr1:59384277-59384278
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59245419..59251049-chr1:59381076..59386863,7	K562	blood:
2	chr1:59366023..59368709-chr1:59384060..59386406,2	K562	blood:
3	chr1:59377084..59380234-chr1:59380830..59384528,3	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10158831	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10789072	0.80[JPT][hapmap]
rs10889121	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11207331	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090072	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12122077	0.80[JPT][hapmap]
rs12142126	0.80[JPT][hapmap]
rs2038863	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2477745	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2716105	0.80[CEU][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs2716107	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs2716113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2716115	0.92[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs2716127	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2764911	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2764914	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2764915	0.92[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs2764917	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2953376	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015311	0.80[CEU][hapmap];0.84[JPT][hapmap]
rs3015312	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4912382	0.90[CHB][hapmap];1.00[JPT][hapmap]

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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59379600-59387800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:59380000-59384800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:59381200-59384800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:59381400-59387200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:59382800-59387000	Weak transcription	NHEK	skin
7	chr1:59383000-59386800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:59383800-59387600	Weak transcription	Right Atrium	heart

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