Variant report

Variant	rs12590130
Chromosome Location	chr14:77720522-77720523
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12437257	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs383459	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs429443	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733416	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs733417	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	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
3	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:77708400-77720600	Strong transcription	Fetal Brain Female	brain
3	chr14:77709800-77729600	Weak transcription	Fetal Brain Male	brain
4	chr14:77711200-77731000	Weak transcription	Spleen	Spleen
5	chr14:77712400-77720800	Strong transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:77712800-77720800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:77713200-77726800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:77714000-77723400	Weak transcription	Fetal Intestine Large	intestine
9	chr14:77714800-77720800	Strong transcription	Brain Germinal Matrix	brain
10	chr14:77715800-77721400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:77716200-77724200	Weak transcription	Brain Angular Gyrus	brain
12	chr14:77718200-77720600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:77718200-77720800	Strong transcription	Esophagus	oesophagus
14	chr14:77718400-77726800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:77719800-77720800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:77719800-77720800	Strong transcription	Brain Anterior Caudate	brain
17	chr14:77720000-77724600	Weak transcription	Fetal Intestine Small	intestine
18	chr14:77720400-77724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

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

what's new

Quick links