Variant report

Variant	rs73403319
Chromosome Location	chr12:117956260-117956261
allele	A/C
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]
rs11068525	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068527	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11068529	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56138419	1.00[AMR][1000 genomes]
rs56863396	1.00[AMR][1000 genomes]
rs57524460	1.00[AMR][1000 genomes]
rs58706184	1.00[AMR][1000 genomes]
rs60231037	1.00[AMR][1000 genomes]
rs7312290	1.00[AMR][1000 genomes]
rs73399543	1.00[AMR][1000 genomes]
rs73401413	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403396	1.00[AMR][1000 genomes];1.00[EUR][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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117940200-117978600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117951600-117956400	Weak transcription	Right Atrium	heart
3	chr12:117951600-117956600	Weak transcription	Gastric	stomach
4	chr12:117952000-117956600	Weak transcription	Psoas Muscle	Psoas
5	chr12:117952200-117956600	Weak transcription	Pancreas	Pancrea
6	chr12:117953000-117962200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:117953000-117995600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:117953200-117956400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:117953600-117956800	Weak transcription	HUVEC	blood vessel
10	chr12:117953800-117962000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:117954200-117966000	Weak transcription	Left Ventricle	heart
12	chr12:117955800-117956400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:117955800-117956600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:117956000-117956800	Weak transcription	Fetal Heart	heart
15	chr12:117956000-117958400	Weak transcription	Brain Germinal Matrix	brain
16	chr12:117956000-117958600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:117956000-117960000	Enhancers	Liver	Liver
18	chr12:117956200-117957600	Enhancers	HepG2	liver
19	chr12:117956200-117958400	Enhancers	Rectal Mucosa Donor 31	rectum

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