Variant report

Variant	rs1614000
Chromosome Location	chr7:112373996-112373997
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10215501	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10216223	0.91[ASN][1000 genomes]
rs10216230	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10226382	0.85[ASN][1000 genomes]
rs10228483	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10233896	0.81[EUR][1000 genomes]
rs10234058	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10238492	0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap]
rs10242871	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10247759	0.91[ASN][1000 genomes]
rs10250630	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10253054	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10256800	0.85[ASN][1000 genomes]
rs10257210	0.85[ASN][1000 genomes]
rs10261844	0.86[EUR][1000 genomes]
rs10265582	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269793	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10273060	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10273589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10275208	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.87[TSI][hapmap]
rs10280638	0.94[ASN][1000 genomes]
rs10280916	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1044262	0.85[CEU][hapmap]
rs10953717	0.85[EUR][1000 genomes]
rs11538991	0.81[EUR][1000 genomes]
rs11762442	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11762737	0.85[CEU][hapmap];0.86[CHD][hapmap];0.87[TSI][hapmap]
rs11768408	0.81[CHD][hapmap];0.84[TSI][hapmap]
rs11768787	0.86[CHD][hapmap]
rs1227155	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1227163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1227171	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1227174	1.00[CHB][hapmap];0.84[MEX][hapmap]
rs1227181	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1227190	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1238698	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1530756	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.90[TSI][hapmap]
rs1547554	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1615468	0.94[ASN][1000 genomes]
rs1718944	0.82[JPT][hapmap]
rs1718967	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs17405723	0.85[CEU][hapmap];0.87[CHD][hapmap];0.87[TSI][hapmap]
rs1796491	0.82[CHB][hapmap]
rs1796492	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1796493	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1796516	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1922907	0.88[ASN][1000 genomes]
rs1996843	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2396570	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[TSI][hapmap]
rs2396574	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2457	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2687267	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2708296	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs28681358	0.85[ASN][1000 genomes]
rs2905274	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3734956	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3957315	0.82[CHB][hapmap];0.94[CHD][hapmap];0.85[TSI][hapmap]
rs3997335	0.82[JPT][hapmap]
rs4490768	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494324	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs552304	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs56113805	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56376790	0.86[EUR][1000 genomes]
rs564494	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6466419	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6466421	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs672911	0.82[JPT][hapmap]
rs685259	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6944843	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs6945635	0.88[ASN][1000 genomes]
rs6946335	0.94[ASN][1000 genomes]
rs6948876	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6950318	0.94[ASN][1000 genomes]
rs6953522	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs6970266	0.88[ASN][1000 genomes]
rs726593	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7777973	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs7780098	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7781871	0.85[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap]
rs7803405	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7806781	1.00[CHB][hapmap];0.88[CHD][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs7808616	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs821783	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs821785	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs821787	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs9655816	0.82[ASN][1000 genomes]
rs9969347	0.82[CHB][hapmap];0.82[JPT][hapmap]

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv528753	chr7:112373996-112378203	Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1614000	C7orf53	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112364600-112388400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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