Variant report

Variant	rs74145503
Chromosome Location	chr1:222775337-222775338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222769036..222771053-chr1:222772761..222776622,3	MCF-7	breast:
2	chr1:222768595..222770537-chr1:222773766..222776283,2	K562	blood:
3	chr1:222774712..222777472-chr1:222791624..222793384,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIA3-5	chr1:222775325-222776297	ucscGeneNc_uc001hor_1

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1024065	0.97[AMR][1000 genomes]
rs10495194	0.89[AMR][1000 genomes]
rs17163490	1.00[ASN][1000 genomes]
rs17464857	0.94[AMR][1000 genomes]
rs17474354	1.00[ASN][1000 genomes]
rs17511318	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17531007	1.00[ASN][1000 genomes]
rs17531580	1.00[ASN][1000 genomes]
rs17532981	1.00[ASN][1000 genomes]
rs1909194	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1982983	0.87[AMR][1000 genomes]
rs2006790	0.94[AMR][1000 genomes]
rs2378585	0.82[EUR][1000 genomes]
rs2936030	0.91[AMR][1000 genomes]
rs2936039	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2936041	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3002130	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3008647	0.91[AMR][1000 genomes]
rs3008653	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3008654	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4360530	0.82[EUR][1000 genomes]
rs73122816	0.86[AMR][1000 genomes]
rs73122823	0.94[AMR][1000 genomes]
rs73122834	0.92[AMR][1000 genomes]
rs73122837	0.92[AMR][1000 genomes]
rs73122849	0.92[AMR][1000 genomes]
rs73122850	0.94[AMR][1000 genomes]
rs73122857	0.94[AMR][1000 genomes]
rs74148133	0.89[AMR][1000 genomes]
rs74148140	0.91[AMR][1000 genomes]
rs74148142	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222773800-222780400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:222774200-222776000	Enhancers	Stomach Mucosa	stomach
3	chr1:222775200-222775600	Enhancers	HUVEC	blood vessel

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