Variant report

Variant	rs1122180
Chromosome Location	chr14:77706048-77706049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2216088	0.89[AFR][1000 genomes]
rs440094	0.92[AFR][1000 genomes]
rs56877603	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056773	0.85[AFR][1000 genomes]
rs57290399	0.89[AFR][1000 genomes]
rs57930391	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58044615	0.89[AFR][1000 genomes]
rs58929764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59093017	0.84[AFR][1000 genomes]
rs60701738	1.00[AMR][1000 genomes]
rs60710489	1.00[AMR][1000 genomes]
rs61363370	0.83[AFR][1000 genomes]
rs61736609	0.89[AFR][1000 genomes]
rs73303563	1.00[AMR][1000 genomes]
rs73303571	1.00[AMR][1000 genomes]
rs73303578	1.00[AMR][1000 genomes]
rs73303586	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309138	0.86[AFR][1000 genomes];1.00[AMR][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	chr14:77692800-77712400	Weak transcription	Fetal Intestine Small	intestine
4	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:77698400-77720000	Weak transcription	Pancreas	Pancrea
6	chr14:77701400-77708400	Weak transcription	Brain Angular Gyrus	brain
7	chr14:77701600-77710000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:77704800-77719200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:77705000-77707800	Strong transcription	Brain Germinal Matrix	brain
10	chr14:77705400-77707000	Strong transcription	Fetal Brain Female	brain
11	chr14:77705600-77707000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:77705600-77714400	Weak transcription	Brain Anterior Caudate	brain
13	chr14:77705800-77706200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:77705800-77706800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:77705800-77709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:77706000-77706800	Strong transcription	Brain Inferior Temporal Lobe	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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