Variant report

Variant	rs1900938
Chromosome Location	chr21:17775056-17775057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1034344	0.87[EUR][1000 genomes]
rs11910984	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11911026	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12481894	0.81[CEU][hapmap]
rs12483194	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1449517	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1992970	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2823790	0.81[CHB][hapmap]
rs8128116	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	nsv913416	chr21:17728224-17863882	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv913417	chr21:17762340-17777827	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription	lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv913418	chr21:17767773-17786219	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3455310	chr21:17770886-17775518	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
7	esv3455312	chr21:17770886-17775518	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases
8	esv3455311	chr21:17770913-17775515	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
9	nsv817915	chr21:17772069-17775056	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
10	nsv979496	chr21:17772425-17789214	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv913419	chr21:17775056-17826260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17761600-17780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17770000-17775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr21:17771000-17775400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:17774800-17775400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:17775000-17775400	Enhancers	Brain Angular Gyrus	brain
7	chr21:17775000-17775400	Enhancers	Ovary	ovary
8	chr21:17775000-17775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:17775000-17775600	Enhancers	Brain Anterior Caudate	brain
10	chr21:17775000-17775600	Enhancers	Brain Cingulate Gyrus	brain
11	chr21:17775000-17775600	Enhancers	Brain Substantia Nigra	brain
12	chr21:17775000-17775600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr21:17775000-17775800	Enhancers	Left Ventricle	heart

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