Variant report

Variant	rs6670548
Chromosome Location	chr1:210395517-210395518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12239511	1.00[EUR][1000 genomes]
rs55961233	1.00[EUR][1000 genomes]
rs56195858	1.00[EUR][1000 genomes]
rs59599798	1.00[EUR][1000 genomes]
rs73063762	0.86[AFR][1000 genomes];0.81[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210389000-210395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:210393400-210396000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:210395200-210397200	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:210395400-210395600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:210395400-210395800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:210395400-210396200	Enhancers	Fetal Heart	heart
7	chr1:210395400-210396400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:210395400-210396600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:210395400-210396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:210395400-210396800	Enhancers	NHEK	skin

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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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