Variant report

Variant	rs6679026
Chromosome Location	chr1:78619512-78619513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10493607	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12403399	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12403493	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12406044	1.00[ASN][1000 genomes]
rs12407256	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17101413	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17101416	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17101426	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17391994	1.00[ASN][1000 genomes]
rs1853397	1.00[ASN][1000 genomes]
rs2208967	1.00[ASN][1000 genomes]
rs479113	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591448	0.88[EUR][1000 genomes]
rs72687195	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72688706	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72688719	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72688735	1.00[ASN][1000 genomes]
rs7542998	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:78609200-78624600	Weak transcription	Pancreas	Pancrea
3	chr1:78609200-78624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:78609600-78620800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:78611600-78631400	Weak transcription	Liver	Liver
6	chr1:78619000-78619800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr1:78619000-78620600	Strong transcription	Fetal Intestine Small	intestine
8	chr1:78619200-78621200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:78619200-78622400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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