Variant report

Variant	rs2063370
Chromosome Location	chr7:118281847-118281848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10235550	0.88[EUR][1000 genomes]
rs10500064	0.84[EUR][1000 genomes]
rs10953871	0.87[EUR][1000 genomes]
rs1120921	0.82[EUR][1000 genomes]
rs1120922	0.82[EUR][1000 genomes]
rs11509197	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761992	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762065	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763035	0.86[EUR][1000 genomes]
rs11765778	0.83[EUR][1000 genomes]
rs11767676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11771057	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11772018	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12668697	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12706196	0.86[EUR][1000 genomes]
rs13225141	0.86[EUR][1000 genomes]
rs1355314	0.83[EUR][1000 genomes]
rs1397325	0.82[EUR][1000 genomes]
rs1510504	0.83[EUR][1000 genomes]
rs1588447	0.84[ASW][hapmap];0.81[CEU][hapmap];0.82[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1606005	0.83[EUR][1000 genomes]
rs1880152	0.83[EUR][1000 genomes]
rs1916713	0.83[EUR][1000 genomes]
rs1916716	0.81[EUR][1000 genomes]
rs1996945	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030649	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049368	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2175297	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2175298	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2175299	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2214150	0.82[EUR][1000 genomes]
rs2248782	0.82[EUR][1000 genomes]
rs2402397	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2402398	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2402399	0.82[EUR][1000 genomes]
rs2521214	0.82[EUR][1000 genomes]
rs2521215	0.82[EUR][1000 genomes]
rs2521216	0.82[EUR][1000 genomes]
rs2521217	0.82[EUR][1000 genomes]
rs2665760	0.82[EUR][1000 genomes]
rs2665764	0.82[EUR][1000 genomes]
rs2665765	0.82[EUR][1000 genomes]
rs2665769	0.82[EUR][1000 genomes]
rs2689753	0.82[EUR][1000 genomes]
rs2689754	0.82[EUR][1000 genomes]
rs2689756	0.81[EUR][1000 genomes]
rs2689757	0.82[EUR][1000 genomes]
rs2689758	0.82[EUR][1000 genomes]
rs304513	0.81[EUR][1000 genomes]
rs304514	0.81[EUR][1000 genomes]
rs304525	0.89[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs4582494	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4730879	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55698509	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56141723	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57668449	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58071836	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58152297	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62468656	0.83[EUR][1000 genomes]
rs62468657	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62468658	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62470082	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62470083	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62470084	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62470086	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62470087	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466668	0.83[EUR][1000 genomes]
rs6466669	0.82[EUR][1000 genomes]
rs6949669	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6968493	0.84[EUR][1000 genomes]
rs778876	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7796854	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797235	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7797750	0.83[EUR][1000 genomes]
rs7800988	0.88[EUR][1000 genomes]
rs960884	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960886	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641606	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641607	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641609	0.84[AMR][1000 genomes];0.90[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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2063370	ING3	cis	parietal	SCAN
rs2063370	CFTR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118280400-118282800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr7:118281400-118282000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:118281400-118282400	Enhancers	Dnd41	blood
4	chr7:118281600-118286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:118281600-118286800	Weak transcription	Psoas Muscle	Psoas

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