Variant report

Variant	rs2970053
Chromosome Location	chr17:50224465-50224466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1393729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1393734	0.82[AMR][1000 genomes]
rs1503048	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2970051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2970054	0.99[ASN][1000 genomes]
rs2970055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970056	1.00[ASN][1000 genomes]
rs9910483	0.84[AMR][1000 genomes]
rs9914711	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492317	chr17:50067819-50774475	Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr17:50221000-50228200	Enhancers	NHEK	skin
2	chr17:50222000-50228000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:50222200-50227800	Enhancers	HMEC	breast
4	chr17:50222400-50228000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:50222600-50227600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:50223000-50225200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:50223400-50225000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:50223400-50225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:50223600-50224600	Weak transcription	NH-A	brain
10	chr17:50224000-50228000	Enhancers	Hela-S3	cervix
11	chr17:50224400-50225000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr17:50224400-50225200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:50224400-50225200	Weak transcription	Fetal Muscle Leg	muscle

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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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