Variant report

Variant	rs523223
Chromosome Location	chr11:119763417-119763418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs486876	0.82[ASN][1000 genomes]
rs504485	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs509809	0.86[ASN][1000 genomes]
rs515278	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][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	nsv1051526	chr11:119750335-119775811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1038232	chr11:119759344-119785065	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 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	chr11:119747200-119768200	Weak transcription	Fetal Intestine Small	intestine
2	chr11:119758800-119764000	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119759400-119763800	Enhancers	Brain Anterior Caudate	brain
4	chr11:119760000-119764200	Enhancers	Brain Substantia Nigra	brain
5	chr11:119760200-119764600	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:119760400-119763800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:119760400-119764200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:119760800-119764600	Enhancers	Fetal Heart	heart
9	chr11:119761600-119764000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:119761800-119763600	Enhancers	Fetal Brain Male	brain
11	chr11:119762000-119763600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:119762600-119765600	Weak transcription	Esophagus	oesophagus
13	chr11:119763000-119764600	Weak transcription	Brain Angular Gyrus	brain
14	chr11:119763000-119767800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:119763000-119768400	Weak transcription	Left Ventricle	heart
16	chr11:119763000-119780800	Weak transcription	Right Atrium	heart
17	chr11:119763200-119763800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:119763400-119763600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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