Variant report

Variant	rs9471438
Chromosome Location	chr6:12307264-12307265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs17765653	0.87[MEX][hapmap]
rs4711654	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4711655	0.86[AFR][1000 genomes]
rs4714383	0.82[CHB][hapmap]
rs4714384	0.87[CHB][hapmap]
rs4714414	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6458193	0.83[CHB][hapmap]
rs6921790	0.81[CHB][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes]
rs9357344	0.82[JPT][hapmap]
rs9369246	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9381013	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs9381015	0.87[CHB][hapmap]
rs9381033	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs9381035	0.82[MEX][hapmap];0.82[YRI][hapmap]
rs9471440	0.86[AFR][1000 genomes]
rs9471441	0.86[AFR][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	nsv508394	chr6:12285464-12386745	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv525684	chr6:12301462-12307264	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9471438	TBC1D7	cis	cerebellum	SCAN
rs9471438	TMEM14C	cis	cerebellum	SCAN
rs9471438	RN7SKP293	cis	Artery Tibial	GTEx
rs9471438	EDN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12296600-12314400	Weak transcription	Spleen	Spleen
2	chr6:12297200-12311200	Weak transcription	HUVEC	blood vessel
3	chr6:12305400-12311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:12306200-12309600	Transcr. at gene 5' and 3'	A549	lung
5	chr6:12306800-12307600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:12306800-12309400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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