Variant report

Variant	rs11772018
Chromosome Location	chr7:118246507-118246508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1120921	0.93[EUR][1000 genomes]
rs1120922	0.93[EUR][1000 genomes]
rs11509197	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11560382	0.88[EUR][1000 genomes]
rs11761992	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11762065	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11765778	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11767676	0.84[ASW][hapmap];0.89[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11771057	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12668697	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13237572	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13241168	0.83[EUR][1000 genomes]
rs1397325	0.93[EUR][1000 genomes]
rs1510502	0.87[EUR][1000 genomes]
rs1588447	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1721228	0.88[EUR][1000 genomes]
rs1880156	0.80[EUR][1000 genomes]
rs1916710	0.83[EUR][1000 genomes]
rs1916713	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1916716	0.92[EUR][1000 genomes]
rs1996945	0.89[CEU][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2030649	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2049368	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2063370	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2175297	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2175298	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2175299	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2214150	0.93[EUR][1000 genomes]
rs2248782	0.93[EUR][1000 genomes]
rs2402397	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402398	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402399	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2521214	0.93[EUR][1000 genomes]
rs2521215	0.93[EUR][1000 genomes]
rs2521216	0.93[EUR][1000 genomes]
rs2521217	0.93[EUR][1000 genomes]
rs2665760	0.93[EUR][1000 genomes]
rs2665763	0.87[EUR][1000 genomes]
rs2665764	0.93[EUR][1000 genomes]
rs2665765	0.93[EUR][1000 genomes]
rs2665766	0.87[EUR][1000 genomes]
rs2665769	0.93[EUR][1000 genomes]
rs2665770	0.87[EUR][1000 genomes]
rs2665773	0.84[EUR][1000 genomes]
rs2689753	0.93[EUR][1000 genomes]
rs2689754	0.93[EUR][1000 genomes]
rs2689755	0.87[EUR][1000 genomes]
rs2689756	0.92[EUR][1000 genomes]
rs2689757	0.93[EUR][1000 genomes]
rs2689758	0.93[EUR][1000 genomes]
rs304513	0.92[EUR][1000 genomes]
rs304514	0.92[EUR][1000 genomes]
rs304521	0.82[EUR][1000 genomes]
rs304522	0.90[EUR][1000 genomes]
rs304524	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs304525	1.00[CEU][hapmap];0.80[GIH][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs304534	0.85[EUR][1000 genomes]
rs304535	0.87[EUR][1000 genomes]
rs4582494	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730879	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55698509	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56141723	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57668449	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58071836	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58152297	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62468656	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62468657	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62468658	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62470082	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62470083	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62470084	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62470086	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62470087	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6466668	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466669	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466671	0.85[EUR][1000 genomes]
rs6949669	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6951273	0.86[EUR][1000 genomes]
rs6967347	0.86[EUR][1000 genomes]
rs6968493	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6972496	0.86[EUR][1000 genomes]
rs778876	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7796854	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7797235	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7797750	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806733	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs960884	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs960886	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9641606	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9641607	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9641609	0.80[EUR][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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889093	chr7:117977091-118709754	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11772018	CFTR	cis	parietal	SCAN
rs11772018	KCND2	cis	parietal	SCAN
rs11772018	ING3	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118239400-118249200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:118246000-118249800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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