Variant report

Variant	rs1337819
Chromosome Location	chr6:49872308-49872309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12191200	1.00[MKK][hapmap]
rs12196205	1.00[MKK][hapmap]
rs12201007	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12204651	1.00[MKK][hapmap]
rs12207683	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1547776	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1572882	1.00[MKK][hapmap]
rs17736662	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55727321	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62404942	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62406371	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62406372	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62406373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62406377	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62406378	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7738293	1.00[MKK][hapmap]

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	nsv933942	chr6:49480550-50004231	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv933833	chr6:49515134-49961765	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv462944	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv603091	chr6:49869448-49948059	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1337819	TMEM14A	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49869600-49874600	Enhancers	Fetal Intestine Large	intestine
2	chr6:49870200-49874000	Enhancers	Fetal Intestine Small	intestine
3	chr6:49870400-49875000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:49870800-49877400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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