Variant report

Variant	rs2430406
Chromosome Location	chr1:223391919-223391920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10047135	1.00[AMR][1000 genomes]
rs17163736	1.00[AMR][1000 genomes]
rs2160153	1.00[AMR][1000 genomes]
rs712864	1.00[AMR][1000 genomes]
rs7538506	1.00[AMR][1000 genomes]
rs851148	0.90[AFR][1000 genomes]
rs851150	0.90[AFR][1000 genomes]
rs851152	0.90[AFR][1000 genomes]
rs851155	1.00[AFR][1000 genomes]
rs851161	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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:223387800-223392400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:223387800-223392400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:223390200-223394600	Weak transcription	Fetal Brain Male	brain
5	chr1:223390400-223402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:223390400-223406400	Weak transcription	Gastric	stomach
7	chr1:223390800-223392000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:223390800-223395000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:223391200-223393200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:223391800-223393000	ZNF genes & repeats	Ovary	ovary

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