Variant report

Variant	rs388354
Chromosome Location	chr7:40190449-40190450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10081308	0.86[ASN][1000 genomes]
rs10081355	0.89[ASN][1000 genomes]
rs10227386	0.90[ASN][1000 genomes]
rs10228020	0.88[ASN][1000 genomes]
rs10229517	0.88[ASN][1000 genomes]
rs10230530	0.88[ASN][1000 genomes]
rs10242519	0.88[ASN][1000 genomes]
rs10243494	0.88[ASN][1000 genomes]
rs10259565	0.88[ASN][1000 genomes]
rs10261251	0.88[ASN][1000 genomes]
rs10267954	0.93[ASN][1000 genomes]
rs10269349	0.90[ASN][1000 genomes]
rs10276687	0.85[ASN][1000 genomes]
rs10951626	0.90[ASN][1000 genomes]
rs10951627	0.86[ASN][1000 genomes]
rs11760739	0.93[ASN][1000 genomes]
rs11763047	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11767697	0.88[ASN][1000 genomes]
rs11768838	0.90[ASN][1000 genomes]
rs11769327	0.88[ASN][1000 genomes]
rs12333691	0.90[ASN][1000 genomes]
rs12333929	0.88[ASN][1000 genomes]
rs12530776	0.89[ASN][1000 genomes]
rs12534074	0.88[ASN][1000 genomes]
rs12535524	0.89[ASN][1000 genomes]
rs13231777	0.91[ASN][1000 genomes]
rs13233333	0.85[ASN][1000 genomes]
rs1406565	0.88[ASN][1000 genomes]
rs1406566	0.90[ASN][1000 genomes]
rs1534675	0.88[ASN][1000 genomes]
rs1830422	0.84[ASN][1000 genomes]
rs1874232	0.92[ASN][1000 genomes]
rs1874233	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1881683	0.88[ASN][1000 genomes]
rs1881684	0.93[ASN][1000 genomes]
rs1919615	0.88[ASN][1000 genomes]
rs1973398	0.84[ASN][1000 genomes]
rs1989589	0.89[ASN][1000 genomes]
rs2009560	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2019838	0.87[ASN][1000 genomes]
rs2024200	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2036041	0.88[ASN][1000 genomes]
rs2056775	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2109340	0.88[ASN][1000 genomes]
rs2329695	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28733232	0.87[ASN][1000 genomes]
rs28742222	0.89[ASN][1000 genomes]
rs34960564	0.90[ASN][1000 genomes]
rs3966459	0.88[ASN][1000 genomes]
rs4720354	0.88[ASN][1000 genomes]
rs4723931	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4723934	0.86[ASN][1000 genomes]
rs6462961	0.89[ASN][1000 genomes]
rs6462963	0.88[ASN][1000 genomes]
rs6462965	0.85[ASN][1000 genomes]
rs66481381	0.86[ASN][1000 genomes]
rs66912039	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67438499	0.86[ASN][1000 genomes]
rs6944166	0.85[ASN][1000 genomes]
rs6948982	0.90[ASN][1000 genomes]
rs6951375	0.90[ASN][1000 genomes]
rs6954096	0.91[ASN][1000 genomes]
rs6957274	0.87[ASN][1000 genomes]
rs6957766	0.89[ASN][1000 genomes]
rs6962410	0.88[ASN][1000 genomes]
rs6963804	0.89[ASN][1000 genomes]
rs6968402	0.80[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6978474	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6979628	0.87[ASN][1000 genomes]
rs71560176	0.88[ASN][1000 genomes]
rs7776964	0.88[ASN][1000 genomes]
rs7776967	0.88[ASN][1000 genomes]
rs7778061	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7779560	0.80[ASN][1000 genomes]
rs7780858	0.88[ASN][1000 genomes]
rs7796371	0.89[ASN][1000 genomes]
rs7802584	0.88[ASN][1000 genomes]
rs7808529	0.90[ASN][1000 genomes]
rs7809368	0.89[ASN][1000 genomes]
rs7810509	0.89[ASN][1000 genomes]
rs887445	0.88[ASN][1000 genomes]
rs887447	0.87[ASN][1000 genomes]
rs9639824	0.84[ASN][1000 genomes]
rs9690188	0.92[ASN][1000 genomes]
rs9791485	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active 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	17 gene(s)	inside rSNPs	diseases
3	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers 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	16 gene(s)	inside rSNPs	diseases
5	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1024735	chr7:40149227-40203356	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1029560	chr7:40179906-40215882	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1032849	chr7:40179906-40220205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1026521	chr7:40182678-40220205	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs388354	CDC2L5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40175600-40191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:40181200-40202400	Weak transcription	HSMMtube	muscle
3	chr7:40186000-40191400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:40187200-40191200	Weak transcription	Fetal Intestine Small	intestine
5	chr7:40187400-40191000	Weak transcription	Fetal Intestine Large	intestine
6	chr7:40190200-40202200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:40190400-40190600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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