Variant report

Variant	rs74070883
Chromosome Location	chr1:45638000-45638001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45607017..45608869-chr1:45636560..45638777,2	MCF-7	breast:
2	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs55737255	1.00[AMR][1000 genomes]
rs55871654	1.00[AMR][1000 genomes]
rs55996831	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56139314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56229368	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56858212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57849329	1.00[AMR][1000 genomes]
rs58030745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58301056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59888189	1.00[AMR][1000 genomes]
rs60088568	0.87[AFR][1000 genomes]
rs60219606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61564383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070839	0.94[AFR][1000 genomes]
rs74070844	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070854	1.00[AMR][1000 genomes]
rs74070855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070875	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070878	1.00[AMR][1000 genomes]
rs74070879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070891	1.00[AMR][1000 genomes]
rs74070896	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070899	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070900	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072212	1.00[AMR][1000 genomes]
rs74072213	1.00[AMR][1000 genomes]
rs74072217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072221	1.00[AMR][1000 genomes]
rs74072224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv947110	chr1:45627447-45642615	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv9846	chr1:45634577-45645451	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2760743	chr1:45634781-45641788	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv546149	chr1:45635802-45641737	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv546150	chr1:45635802-45643039	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv546151	chr1:45635802-45643619	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv546152	chr1:45635802-45645069	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv546153	chr1:45635802-45645097	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv546154	chr1:45635995-45645097	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45635800-45638600	Enhancers	Hela-S3	cervix
3	chr1:45636600-45639600	Weak transcription	Pancreas	Pancrea
4	chr1:45637400-45638800	Enhancers	Liver	Liver
5	chr1:45637600-45638000	Enhancers	Fetal Intestine Large	intestine
6	chr1:45637600-45638000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:45637800-45638200	Active TSS	HepG2	liver
8	chr1:45637800-45639000	Enhancers	A549	lung
9	chr1:45638000-45638200	Weak transcription	Fetal Intestine Large	intestine
10	chr1:45638000-45638800	Enhancers	Pancreatic Islets	Pancreatic Islet

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