Variant report

Variant	rs547136
Chromosome Location	chr6:72210423-72210424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1486595	1.00[YRI][hapmap]
rs17450894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17548083	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17548917	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs183213	1.00[AFR][1000 genomes]
rs199643	1.00[YRI][hapmap]
rs199648	1.00[AFR][1000 genomes]
rs2092531	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4454101	1.00[YRI][hapmap]
rs485722	1.00[AFR][1000 genomes]
rs503891	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs530938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6453551	1.00[YRI][hapmap]
rs6453553	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830684	chr6:72094842-72282684	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	488 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs547136	SERPINA1	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72206200-72218600	Weak transcription	Aorta	Aorta
2	chr6:72206600-72212600	Weak transcription	HSMMtube	muscle
3	chr6:72206600-72213400	Weak transcription	NHLF	lung
4	chr6:72206600-72218400	Weak transcription	Fetal Lung	lung
5	chr6:72210000-72210800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:72210000-72212200	Enhancers	Liver	Liver
7	chr6:72210400-72219000	Weak transcription	Fetal Kidney	kidney

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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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