Variant report

Variant	rs1510504
Chromosome Location	chr7:118285146-118285147
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:118284323..118287157-chr7:118287242..118290807,4	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10235550	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10953871	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11509197	0.83[EUR][1000 genomes]
rs11560382	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11761992	0.88[EUR][1000 genomes]
rs11762065	0.90[EUR][1000 genomes]
rs11763035	0.81[EUR][1000 genomes]
rs11767676	0.89[CEU][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs11771057	0.83[EUR][1000 genomes]
rs12706196	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13225141	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13241168	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1355314	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1510502	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1588447	0.85[CEU][hapmap]
rs1606005	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1721228	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1880152	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916710	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1996945	0.89[CEU][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes]
rs2030649	0.83[EUR][1000 genomes]
rs2049368	0.83[EUR][1000 genomes]
rs2063370	0.83[EUR][1000 genomes]
rs2175297	0.83[EUR][1000 genomes]
rs2175298	0.84[EUR][1000 genomes]
rs2175299	0.83[EUR][1000 genomes]
rs2665763	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2665766	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2665770	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2689755	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs304521	0.82[AMR][1000 genomes]
rs304524	0.89[CEU][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs304525	0.93[GIH][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]
rs304534	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs304535	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730879	0.83[EUR][1000 genomes]
rs55698509	0.83[EUR][1000 genomes]
rs56141723	0.83[EUR][1000 genomes]
rs57668449	0.83[EUR][1000 genomes]
rs58071836	0.83[EUR][1000 genomes]
rs58152297	0.83[EUR][1000 genomes]
rs62470082	0.83[EUR][1000 genomes]
rs62470083	0.83[EUR][1000 genomes]
rs62470084	0.82[EUR][1000 genomes]
rs62470086	0.83[EUR][1000 genomes]
rs62470087	0.84[EUR][1000 genomes]
rs6466671	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6949669	0.83[EUR][1000 genomes]
rs6951273	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6967347	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6972496	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs778876	0.82[EUR][1000 genomes]
rs7796854	0.88[EUR][1000 genomes]
rs7800988	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs960884	0.83[EUR][1000 genomes]
rs960886	0.83[EUR][1000 genomes]
rs9641606	0.83[EUR][1000 genomes]
rs9641607	0.82[EUR][1000 genomes]
rs9641609	0.84[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
rs1510504	CFTR	cis	parietal	SCAN
rs1510504	WNT2	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118281600-118286800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:118281600-118286800	Weak transcription	Psoas Muscle	Psoas
3	chr7:118282800-118285600	Enhancers	Dnd41	blood

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