Variant report

Variant	rs12588589
Chromosome Location	chr14:77694993-77694994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10138255	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10138268	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28562820	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4390523	0.81[EUR][1000 genomes]
rs440715	0.81[EUR][1000 genomes]
rs449773	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs450141	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57250056	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59641845	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61991634	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61991637	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8012703	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888058	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9323638	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS 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	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:77687000-77697000	Weak transcription	Brain Substantia Nigra	brain
4	chr14:77687000-77697200	Weak transcription	Brain Anterior Caudate	brain
5	chr14:77687000-77697800	Weak transcription	Pancreas	Pancrea
6	chr14:77689400-77702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:77691600-77696800	Weak transcription	Brain Germinal Matrix	brain
8	chr14:77691600-77703000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:77692600-77696600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:77692600-77697400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:77692800-77699200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
13	chr14:77693000-77699800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:77693000-77705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:77694400-77704000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:77694600-77699000	Weak transcription	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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