Variant report

Variant	rs7750348
Chromosome Location	chr6:54580930-54580931
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]
rs13218622	0.84[AMR][1000 genomes]
rs13220641	1.00[CEU][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16885970	1.00[CEU][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34304112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35389705	0.86[ASN][1000 genomes]
rs35749125	0.87[ASN][1000 genomes]
rs35900434	0.87[ASN][1000 genomes]
rs71560856	0.84[AMR][1000 genomes]
rs962308	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54575800-54581800	Weak transcription	Fetal Lung	lung
2	chr6:54579800-54581000	Enhancers	Fetal Intestine Small	intestine
3	chr6:54579800-54581400	Enhancers	Liver	Liver
4	chr6:54580000-54582600	Weak transcription	Stomach Mucosa	stomach
5	chr6:54580000-54583000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:54580400-54581200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:54580400-54581200	Enhancers	Fetal Intestine Large	intestine
8	chr6:54580800-54581000	Enhancers	HepG2	liver
9	chr6:54580800-54581000	Enhancers	HMEC	breast

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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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