Variant report

Variant	rs28630402
Chromosome Location	chr14:25503291-25503292
allele	A/C
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:11)

rs_ID	r²[population]
rs10133967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138896	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148708	0.83[AMR][1000 genomes]
rs11848412	0.83[AMR][1000 genomes]
rs12018987	0.83[AMR][1000 genomes]
rs17109507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1952493	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28554072	0.95[AFR][1000 genomes]
rs28565426	0.83[AMR][1000 genomes]
rs61561953	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73595342	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1047792	chr14:25388933-25503799	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25479400-25508600	Weak transcription	Brain Anterior Caudate	brain
2	chr14:25481200-25507400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr14:25488000-25505000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:25492400-25517600	Weak transcription	Psoas Muscle	Psoas
5	chr14:25495400-25507400	Weak transcription	Fetal Lung	lung
6	chr14:25497200-25515200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:25499800-25504600	Weak transcription	Right Ventricle	heart
8	chr14:25501800-25503600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:25502000-25503600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:25502000-25503600	Weak transcription	Pancreas	Pancrea
11	chr14:25502000-25503800	Weak transcription	Left Ventricle	heart
12	chr14:25502000-25504400	Enhancers	HepG2	liver
13	chr14:25502600-25503400	Weak transcription	Stomach Mucosa	stomach

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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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