Variant report

Variant	rs6972496
Chromosome Location	chr7:118268048-118268049
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	chr7:118266967..118268957-chr7:118270334..118272916,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10235550	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953871	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1120921	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1120922	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11560382	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11765778	0.92[EUR][1000 genomes]
rs11767676	0.82[CEU][hapmap]
rs11772018	0.86[EUR][1000 genomes]
rs12668697	0.86[EUR][1000 genomes]
rs12706196	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13225141	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13237572	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13241168	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355314	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1397325	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1510502	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1510504	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1588447	0.92[CEU][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs1606005	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1721228	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1880152	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1916710	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1916713	0.92[EUR][1000 genomes]
rs1916716	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1996945	0.82[CEU][hapmap]
rs2214150	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2248782	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2402397	0.86[EUR][1000 genomes]
rs2402398	0.85[EUR][1000 genomes]
rs2402399	0.91[EUR][1000 genomes]
rs2521214	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2521215	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2521216	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2521217	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665760	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665763	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2665764	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665765	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665766	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2665769	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2665770	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2665773	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2689753	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689754	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2689755	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2689756	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2689757	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2689758	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs304513	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304514	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs304521	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs304522	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs304524	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs304525	0.85[CEU][hapmap];0.89[CHB][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs304534	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs304535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582494	0.86[EUR][1000 genomes]
rs62468656	0.92[EUR][1000 genomes]
rs62468657	0.87[EUR][1000 genomes]
rs62468658	0.87[EUR][1000 genomes]
rs6466668	0.92[EUR][1000 genomes]
rs6466669	0.92[EUR][1000 genomes]
rs6466671	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6951273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6967347	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6968493	0.93[EUR][1000 genomes]
rs7797235	0.86[EUR][1000 genomes]
rs7797750	0.92[EUR][1000 genomes]
rs7800988	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7806733	0.81[AMR][1000 genomes];0.88[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
rs6972496	NAA38	cis	parietal	SCAN
rs6972496	CFTR	cis	parietal	SCAN
rs6972496	ING3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118267200-118269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:118267600-118269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:118267800-118269800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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