Variant report

Variant	rs4817784
Chromosome Location	chr21:16656768-16656769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1111348	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1111349	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11701699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1304524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823195	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823197	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823204	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128057	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128542	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9305576	1.00[EUR][1000 genomes];1.00[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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1056659	chr21:16646531-16709391	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16653000-16663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:16655400-16663000	Weak transcription	HMEC	breast
3	chr21:16656200-16656800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr21:16656400-16656800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr21:16656400-16657600	Enhancers	Psoas Muscle	Psoas
6	chr21:16656600-16658000	Weak transcription	HSMM	muscle
7	chr21:16656600-16658800	Weak transcription	HSMMtube	muscle

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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

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