Variant report

Variant	rs7736518
Chromosome Location	chr5:60005866-60005867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
2	chr5:59998796..60001597-chr5:60005006..60007976,2	MCF-7	breast:
3	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10805370	0.80[EUR][1000 genomes]
rs10939858	0.86[ASN][1000 genomes]
rs10939860	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10939862	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11740327	0.81[EUR][1000 genomes]
rs11741754	0.92[ASN][1000 genomes]
rs11745627	0.81[EUR][1000 genomes]
rs11948543	0.83[EUR][1000 genomes]
rs11952735	0.81[EUR][1000 genomes]
rs11955398	0.92[ASN][1000 genomes]
rs11956023	0.86[EUR][1000 genomes]
rs11959922	0.83[EUR][1000 genomes]
rs12186391	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12514253	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12515025	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12517174	0.91[ASN][1000 genomes]
rs12517207	0.94[ASN][1000 genomes]
rs12522801	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12655515	0.80[EUR][1000 genomes]
rs1379114	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1379115	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1379117	0.83[EUR][1000 genomes]
rs1456742	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1456743	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1562235	0.81[EUR][1000 genomes]
rs17387940	0.89[ASN][1000 genomes]
rs1816899	0.81[EUR][1000 genomes]
rs1824120	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1870014	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2061250	0.82[EUR][1000 genomes]
rs2085409	0.83[ASN][1000 genomes]
rs2085410	0.82[EUR][1000 genomes]
rs2085411	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2085413	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2100584	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2409792	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409794	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2898287	0.81[EUR][1000 genomes]
rs2898288	0.83[ASN][1000 genomes]
rs3857236	0.82[EUR][1000 genomes]
rs4447941	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4524466	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4700380	0.83[EUR][1000 genomes]
rs55720622	0.81[EUR][1000 genomes]
rs55854817	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56191602	0.84[EUR][1000 genomes]
rs56726435	0.92[ASN][1000 genomes]
rs57521726	0.80[EUR][1000 genomes]
rs62373024	0.81[EUR][1000 genomes]
rs62373025	0.80[EUR][1000 genomes]
rs6449483	0.80[EUR][1000 genomes]
rs6449485	0.80[EUR][1000 genomes]
rs6449487	0.87[EUR][1000 genomes]
rs6874072	0.80[EUR][1000 genomes]
rs755077	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7701708	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7707698	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7730342	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs897672	0.86[EUR][1000 genomes]
rs930864	0.82[ASN][1000 genomes]
rs9686489	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9942410	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	esv1794154	chr5:59995393-60012235	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1821070	chr5:59995393-60012235	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1801919	chr5:59995393-60013913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1798810	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1799240	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1803619	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1820307	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1821893	chr5:60001832-60012235	Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1823668	chr5:60001832-60012235	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
18	esv3356454	chr5:60005795-60010093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7736518	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60005800-60006200	Enhancers	Placenta	Placenta

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