Variant report

Variant	rs57093434
Chromosome Location	chr21:15626188-15626189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17001635	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001641	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001769	0.85[AFR][1000 genomes]
rs56365507	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56981823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57135820	0.87[AFR][1000 genomes]
rs57459058	0.87[AFR][1000 genomes]
rs57488075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58249276	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59279175	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59461065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73340221	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73340249	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73340258	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73340260	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73891651	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8134113	0.87[AFR][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	nsv1058202	chr21:14706767-15628668	Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv869466	chr21:15482572-15683385	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1066738	chr21:15587815-15642948	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv520538	chr21:15615220-15660539	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1062532	chr21:15616629-15654501	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1067478	chr21:15616629-15657107	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1062862	chr21:15620391-15649232	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1062500	chr21:15620391-15657107	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1804132	chr21:15620695-15628155	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv915906	chr21:15620908-15651744	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv544374	chr21:15624517-15656011	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15625400-15626400	Enhancers	Brain Cingulate Gyrus	brain
2	chr21:15626000-15626200	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr21:15626000-15626200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:15626000-15626200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:15626000-15626200	Active TSS	Brain Substantia Nigra	brain
6	chr21:15626000-15626200	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr21:15626000-15626200	Active TSS	Dnd41	blood
8	chr21:15626000-15626200	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr21:15626000-15626400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr21:15626000-15626400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr21:15626000-15626400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr21:15626000-15626800	Enhancers	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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