Variant report

Variant	rs502530
Chromosome Location	chr6:145584096-145584097
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12111100	1.00[ASN][1000 genomes]
rs503456	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs526957	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs538952	0.88[EUR][1000 genomes]
rs545097	0.91[EUR][1000 genomes]
rs545585	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555924	0.91[EUR][1000 genomes]
rs564362	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs566635	0.97[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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1022965	chr6:145374851-145635385	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145579400-145593600	Weak transcription	Fetal Kidney	kidney
2	chr6:145582200-145585000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:145582800-145586400	Enhancers	Fetal Lung	lung
4	chr6:145583000-145584800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:145583400-145584200	Enhancers	Fetal Intestine Large	intestine
6	chr6:145583600-145584200	Enhancers	Fetal Intestine Small	intestine
7	chr6:145584000-145584200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:145584000-145586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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