Variant report

Variant	rs9463350
Chromosome Location	chr6:12995048-12995049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11970697	1.00[EUR][1000 genomes]
rs1537339	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1889063	1.00[EUR][1000 genomes]
rs6458615	1.00[EUR][1000 genomes]
rs6900887	1.00[EUR][1000 genomes]
rs6903869	1.00[EUR][1000 genomes]
rs6906831	1.00[EUR][1000 genomes]
rs6909931	1.00[EUR][1000 genomes]
rs6910469	1.00[EUR][1000 genomes]
rs6910939	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6911906	1.00[EUR][1000 genomes]
rs6922653	1.00[EUR][1000 genomes]
rs6923943	1.00[EUR][1000 genomes]
rs6936929	1.00[EUR][1000 genomes]
rs6942132	1.00[EUR][1000 genomes]
rs73368123	1.00[EUR][1000 genomes]
rs73368194	1.00[EUR][1000 genomes]
rs7745649	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7749076	1.00[EUR][1000 genomes]
rs7767573	1.00[EUR][1000 genomes]
rs7769935	1.00[EUR][1000 genomes]
rs7776275	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9463542	1.00[EUR][1000 genomes]
rs9473093	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9473155	1.00[EUR][1000 genomes]
rs9473216	1.00[EUR][1000 genomes]
rs9473435	1.00[TSI][hapmap]
rs9473675	1.00[EUR][1000 genomes]
rs9473677	1.00[EUR][1000 genomes]

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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9463350	EDN1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
4	chr6:12993800-13002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:12994200-12995200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:12994600-12995400	ZNF genes & repeats	H1 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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