Variant report

Variant	rs468094
Chromosome Location	chr21:40217615-40217616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2070529	0.90[EUR][1000 genomes]
rs2070530	0.88[EUR][1000 genomes]
rs2836707	0.83[ASN][1000 genomes]
rs2836708	0.83[ASN][1000 genomes]
rs2836709	0.82[ASN][1000 genomes]
rs457705	0.91[EUR][1000 genomes]
rs459411	0.91[EUR][1000 genomes]
rs460475	0.81[ASN][1000 genomes]
rs460982	0.91[EUR][1000 genomes]
rs461155	0.91[EUR][1000 genomes]
rs463452	0.81[ASN][1000 genomes]
rs467940	0.81[ASN][1000 genomes]
rs467985	0.81[ASN][1000 genomes]
rs468107	0.83[ASN][1000 genomes]
rs468193	0.84[ASN][1000 genomes]
rs468331	0.81[ASN][1000 genomes]
rs468456	0.84[ASN][1000 genomes]
rs468529	0.84[ASN][1000 genomes]
rs468837	0.84[ASN][1000 genomes]
rs468849	0.84[ASN][1000 genomes]
rs469180	0.84[ASN][1000 genomes]
rs469303	0.84[ASN][1000 genomes]
rs469353	0.83[ASN][1000 genomes]
rs7279564	0.83[ASN][1000 genomes]
rs7283959	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40196400-40229000	Weak transcription	Right Ventricle	heart
2	chr21:40203800-40225200	Weak transcription	Psoas Muscle	Psoas
3	chr21:40213000-40219200	Weak transcription	Right Atrium	heart
4	chr21:40213800-40219200	Weak transcription	Hela-S3	cervix
5	chr21:40214400-40219200	Weak transcription	Fetal Stomach	stomach
6	chr21:40215800-40219400	Weak transcription	NH-A	brain
7	chr21:40216000-40219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40216200-40219000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:40216400-40219000	Weak transcription	NHEK	skin
10	chr21:40216400-40219400	Weak transcription	HSMMtube	muscle
11	chr21:40216400-40221200	Weak transcription	HUVEC	blood vessel
12	chr21:40216600-40219200	Weak transcription	HMEC	breast
13	chr21:40216600-40219400	Weak transcription	NHDF-Ad	bronchial
14	chr21:40216800-40219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:40216800-40219200	Weak transcription	Osteobl	bone
16	chr21:40217200-40219200	Weak transcription	Muscle Satellite Cultured Cells	--

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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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