Variant report

Variant	rs7338141
Chromosome Location	chr13:49172776-49172777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10076	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs17071695	1.00[CHD][hapmap]
rs17071960	0.92[AFR][1000 genomes]
rs174858	1.00[CHD][hapmap]
rs3020646	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs4151590	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs449268	1.00[CHD][hapmap]
rs7332631	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs7337926	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7338898	0.84[EUR][1000 genomes]
rs9316386	1.00[CHD][hapmap]
rs9316392	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs9316396	1.00[CHD][hapmap]
rs9316403	0.92[AFR][1000 genomes]
rs9316406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332025	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs9332053	0.82[MEX][hapmap]
rs9332066	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs9591171	1.00[CHD][hapmap];0.82[MEX][hapmap]
rs9595936	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7338141	DDX6	trans	brain	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
2	chr13:49166200-49173800	Weak transcription	Fetal Kidney	kidney
3	chr13:49168200-49174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:49168400-49175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr13:49169800-49177800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:49170000-49174800	Weak transcription	HSMM	muscle
7	chr13:49170000-49176600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:49170400-49175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:49170400-49176400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:49170400-49176600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:49170600-49173200	Weak transcription	Hela-S3	cervix
12	chr13:49172400-49173400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr13:49172400-49174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:49172600-49173000	ZNF genes & repeats	Pancreas	Pancrea

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