Variant report

Variant	rs7742778
Chromosome Location	chr6:15685472-15685473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17473314	0.88[ASN][1000 genomes]
rs2209863	0.88[ASN][1000 genomes]
rs2619538	0.82[ASN][1000 genomes]
rs55913076	0.94[ASN][1000 genomes]
rs56360444	0.88[ASN][1000 genomes]
rs62395009	0.94[ASN][1000 genomes]
rs62395012	0.88[ASN][1000 genomes]
rs62395013	0.88[ASN][1000 genomes]
rs6914388	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755766	0.88[ASN][1000 genomes]
rs7756911	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296989	0.94[ASN][1000 genomes]
rs9464815	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428136	chr6:15595640-15781241	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2755670	chr6:15624762-15736008	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2607475	chr6:15664805-15717086	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2757157	chr6:15668867-15725478	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759408	chr6:15668867-15725478	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3692888	chr6:15675641-15694811	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7742778	DTNBP1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15682800-15686800	Enhancers	Fetal Intestine Small	intestine
2	chr6:15683200-15687400	Enhancers	Fetal Intestine Large	intestine
3	chr6:15683800-15690400	Weak transcription	K562	blood
4	chr6:15684400-15686000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr6:15684600-15689000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:15685000-15685600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:15685000-15685600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:15685200-15690600	Weak transcription	Stomach Mucosa	stomach
9	chr6:15685400-15688200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:15685400-15690400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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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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