Variant report

Variant	rs1938189
Chromosome Location	chr6:48821707-48821708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10484429	0.86[ASN][1000 genomes]
rs10498777	0.95[ASN][1000 genomes]
rs11961380	1.00[ASN][1000 genomes]
rs11962463	0.95[ASN][1000 genomes]
rs11963176	1.00[ASN][1000 genomes]
rs11965476	1.00[ASN][1000 genomes]
rs11966759	1.00[ASN][1000 genomes]
rs11968077	0.85[ASN][1000 genomes]
rs11969013	1.00[ASN][1000 genomes]
rs11970453	1.00[ASN][1000 genomes]
rs11970592	1.00[ASN][1000 genomes]
rs12203534	1.00[ASN][1000 genomes]
rs16878182	0.93[ASN][1000 genomes]
rs16878200	0.95[ASN][1000 genomes]
rs16878246	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878250	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878254	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878284	1.00[ASN][1000 genomes]
rs17289986	0.95[ASN][1000 genomes]
rs1938175	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938177	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938178	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938188	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938200	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016176	0.86[ASN][1000 genomes]
rs2096426	0.88[ASN][1000 genomes]
rs2154345	1.00[ASN][1000 genomes]
rs2186209	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186210	1.00[ASN][1000 genomes]
rs2396884	1.00[ASN][1000 genomes]
rs34366744	1.00[ASN][1000 genomes]
rs4410722	0.95[ASN][1000 genomes]
rs4715104	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55776194	0.85[ASN][1000 genomes]
rs55843069	0.97[ASN][1000 genomes]
rs56975981	0.95[ASN][1000 genomes]
rs57262789	0.85[ASN][1000 genomes]
rs57755228	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59324209	1.00[ASN][1000 genomes]
rs59704925	0.95[ASN][1000 genomes]
rs60663846	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710291	1.00[ASN][1000 genomes]
rs6458635	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900138	0.95[ASN][1000 genomes]
rs6907951	1.00[ASN][1000 genomes]
rs6907997	0.85[ASN][1000 genomes]
rs6908335	1.00[ASN][1000 genomes]
rs6927078	1.00[ASN][1000 genomes]
rs6927218	1.00[ASN][1000 genomes]
rs6927449	1.00[ASN][1000 genomes]
rs6927828	1.00[ASN][1000 genomes]
rs6933051	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860717	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860719	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860720	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860732	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860735	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860736	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72860737	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72860742	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860744	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860749	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860750	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860752	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860755	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72862035	1.00[ASN][1000 genomes]
rs72862038	1.00[ASN][1000 genomes]
rs72862051	1.00[ASN][1000 genomes]
rs72862062	1.00[ASN][1000 genomes]
rs72862067	1.00[ASN][1000 genomes]
rs72862069	1.00[ASN][1000 genomes]
rs72869077	0.85[ASN][1000 genomes]
rs72869083	0.85[ASN][1000 genomes]
rs72869092	0.90[ASN][1000 genomes]
rs72870818	0.95[ASN][1000 genomes]
rs72870857	0.95[ASN][1000 genomes]
rs72870893	0.95[ASN][1000 genomes]
rs72870898	0.95[ASN][1000 genomes]
rs72870901	0.95[ASN][1000 genomes]
rs72872305	0.95[ASN][1000 genomes]
rs72872308	0.95[ASN][1000 genomes]
rs72872314	0.95[ASN][1000 genomes]
rs72872325	0.93[ASN][1000 genomes]
rs72872343	0.95[ASN][1000 genomes]
rs72872348	0.95[ASN][1000 genomes]
rs72872354	0.95[ASN][1000 genomes]
rs72872357	0.95[ASN][1000 genomes]
rs72872364	0.95[ASN][1000 genomes]
rs72872366	0.95[ASN][1000 genomes]
rs72872368	0.95[ASN][1000 genomes]
rs72872374	0.90[ASN][1000 genomes]
rs72872378	0.90[ASN][1000 genomes]
rs760681	0.86[ASN][1000 genomes]
rs7767482	0.95[ASN][1000 genomes]
rs7774329	0.82[EUR][1000 genomes];1.00[ASN][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	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv603037	chr6:48804862-48995221	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1938189	MUT	cis	parietal	SCAN
rs1938189	CRISP3	cis	parietal	SCAN
rs1938189	EFHC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48813200-48831200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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