Variant report

Variant	rs4339551
Chromosome Location	chr7:139996045-139996046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11761116	0.88[ASN][1000 genomes]
rs11763495	0.91[CHB][hapmap]
rs11769879	0.89[ASN][1000 genomes]
rs11772239	0.81[CHB][hapmap]
rs12538711	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs12703730	0.90[CHB][hapmap];0.94[ASN][1000 genomes]
rs12703742	0.81[CHB][hapmap]
rs4236486	0.80[MEX][hapmap]
rs4275141	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358720	0.91[ASN][1000 genomes]
rs4632975	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6464668	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464669	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7784890	0.94[ASN][1000 genomes]
rs7800877	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4339551	PRSS1	cis	parietal	SCAN
rs4339551	TRPV5	cis	cerebellum	SCAN
rs4339551	SLC37A3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139975600-140002600	Weak transcription	Right Atrium	heart
2	chr7:139986800-140007800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:139994600-139999800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:139994600-140004000	Weak transcription	K562	blood
5	chr7:139995000-140000200	Weak transcription	HepG2	liver
6	chr7:139995400-139999800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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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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