Variant report

Variant	rs16997055
Chromosome Location	chr21:40333236-40333237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16997048	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16997065	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997069	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997093	1.00[EUR][1000 genomes]
rs16997100	1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17465348	1.00[EUR][1000 genomes]
rs17465355	1.00[EUR][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40329400-40334200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:40330400-40336400	Weak transcription	Brain Angular Gyrus	brain
3	chr21:40331600-40336400	Weak transcription	Fetal Heart	heart
4	chr21:40331800-40334800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr21:40331800-40336400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr21:40331800-40336600	Weak transcription	Right Ventricle	heart
7	chr21:40331800-40337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:40331800-40338800	Weak transcription	Spleen	Spleen
9	chr21:40332000-40333600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
11	chr21:40332200-40336800	Weak transcription	Fetal Kidney	kidney
12	chr21:40332200-40337400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr21:40332200-40337600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr21:40332400-40337600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr21:40332800-40337600	Weak transcription	Fetal Intestine Large	intestine
16	chr21:40332800-40338000	Weak transcription	Liver	Liver

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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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