Variant report

Variant	rs73906385
Chromosome Location	chr21:41403346-41403347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16998881	1.00[AMR][1000 genomes]
rs73904703	1.00[AMR][1000 genomes]
rs73904704	1.00[AMR][1000 genomes]
rs73904705	1.00[AMR][1000 genomes]
rs73904706	1.00[AMR][1000 genomes]
rs73904707	1.00[AMR][1000 genomes]
rs73906401	1.00[AMR][1000 genomes]
rs8127926	1.00[AMR][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	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv1833464	chr21:41383329-41419524	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region miRNA target site	1 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	chr21:41385800-41413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr21:41386000-41414000	Weak transcription	Fetal Brain Female	brain
3	chr21:41399200-41424600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:41400000-41418000	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:41400600-41405400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:41400800-41404800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr21:41401600-41421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:41402600-41413800	Weak transcription	Fetal Muscle Leg	muscle
9	chr21:41403000-41403800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr21:41403200-41405600	Weak transcription	Fetal Brain Male	brain

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