Variant report

Variant	rs6751751
Chromosome Location	chr2:54937569-54937570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1030602	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713275	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs168505	0.87[ASN][1000 genomes]
rs56100737	0.86[EUR][1000 genomes];0.96[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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6751751	EML6	cis	Thyroid	GTEx
rs6751751	EML6	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54935600-54937600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:54936600-54937600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:54936800-54937600	Enhancers	Gastric	stomach
4	chr2:54937000-54937600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:54937000-54937600	Active TSS	Fetal Intestine Small	intestine
6	chr2:54937000-54937600	Weak transcription	Spleen	Spleen
7	chr2:54937000-54938000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:54937200-54937600	Enhancers	Esophagus	oesophagus
9	chr2:54937200-54937600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:54937200-54937800	Enhancers	Fetal Intestine Large	intestine
11	chr2:54937200-54939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:54937400-54937600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:54937400-54937800	Flanking Active TSS	Pancreas	Pancrea

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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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