Variant report

Variant	rs1152486
Chromosome Location	chr14:56793384-56793385
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1023120	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1028973	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152464	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1152466	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1152471	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1152477	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1152478	0.88[ASN][1000 genomes]
rs1152479	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1152488	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152493	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1188691	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2297610	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
2	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
3	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:56778400-56797200	Weak transcription	Ovary	ovary
5	chr14:56783200-56797200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:56783800-56793400	Weak transcription	Aorta	Aorta
7	chr14:56785200-56793400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:56785800-56793400	Weak transcription	Fetal Intestine Small	intestine
9	chr14:56786800-56798200	Weak transcription	Dnd41	blood
10	chr14:56788400-56800000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:56788400-56800200	Weak transcription	Gastric	stomach
12	chr14:56789400-56793800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:56790400-56793800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:56790400-56793800	Enhancers	Fetal Lung	lung
15	chr14:56791000-56793800	Enhancers	NHLF	lung
16	chr14:56791800-56798400	Weak transcription	HSMMtube	muscle
17	chr14:56792400-56800000	Weak transcription	HSMM	muscle
18	chr14:56792400-56808400	Weak transcription	Fetal Brain Female	brain
19	chr14:56792600-56798200	Weak transcription	NH-A	brain
20	chr14:56792800-56798400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:56793200-56793600	Weak transcription	NHDF-Ad	bronchial
22	chr14:56793200-56800000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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