Variant report

Variant	rs16993505
Chromosome Location	chr21:17456314-17456315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16993384	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16993387	1.00[AMR][1000 genomes]
rs16993393	1.00[AMR][1000 genomes]
rs16993394	1.00[AMR][1000 genomes]
rs16993558	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16993988	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap]
rs57469115	1.00[AMR][1000 genomes]
rs57936518	1.00[AMR][1000 genomes]
rs58529486	1.00[AMR][1000 genomes]
rs59631437	1.00[AMR][1000 genomes]
rs60167288	1.00[AMR][1000 genomes]
rs60300181	1.00[AMR][1000 genomes]
rs881073	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs881074	1.00[AMR][1000 genomes]
rs881076	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913414	chr21:17383785-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2830060	chr21:17400916-17459507	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv527854	chr21:17400916-17459507	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1851038	chr21:17412144-17488119	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17445200-17457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:17446200-17481000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr21:17446800-17472200	Weak transcription	Fetal Brain Female	brain
4	chr21:17452800-17457200	Weak transcription	NH-A	brain
5	chr21:17452800-17457400	Weak transcription	HSMMtube	muscle
6	chr21:17454800-17456400	Weak transcription	NHDF-Ad	bronchial
7	chr21:17454800-17457000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:17454800-17457200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:17454800-17457200	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:17454800-17457800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:17454800-17466000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:17455000-17456800	Weak transcription	Brain Angular Gyrus	brain
13	chr21:17455000-17457000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:17455000-17457000	Weak transcription	Adipose Nuclei	Adipose
15	chr21:17455000-17457000	Enhancers	Brain Cingulate Gyrus	brain
16	chr21:17455400-17456400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:17455400-17457000	Weak transcription	Brain Anterior Caudate	brain
18	chr21:17455400-17457000	Weak transcription	Osteobl	bone
19	chr21:17455600-17457200	Weak transcription	Brain Substantia Nigra	brain
20	chr21:17455600-17459400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:17456000-17457000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:17456000-17459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:17456200-17457000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links