Variant report

Variant	rs4731040
Chromosome Location	chr7:121449928-121449929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10225335	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261190	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10264053	0.84[EUR][1000 genomes]
rs10264157	0.83[EUR][1000 genomes]
rs10278543	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10279662	0.83[EUR][1000 genomes]
rs10488055	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13230741	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2402593	0.81[JPT][hapmap]
rs4731039	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731041	0.86[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs9655836	0.83[EUR][1000 genomes]

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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4731040	CFTR	cis	parietal	SCAN
rs4731040	PTPRZ1	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121440600-121450400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:121443200-121458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:121447600-121451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:121448200-121451200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:121448200-121452200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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