Variant report

Variant	rs55854817
Chromosome Location	chr5:60004460-60004461
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	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
2	chr5:59998145..60001535-chr5:60003151..60006329,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10054744	0.82[ASN][1000 genomes]
rs10058456	0.82[ASN][1000 genomes]
rs10069929	0.82[ASN][1000 genomes]
rs10440618	0.82[ASN][1000 genomes]
rs10471493	0.81[ASN][1000 genomes]
rs10805370	0.86[EUR][1000 genomes]
rs10939858	0.90[ASN][1000 genomes]
rs10939860	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939862	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1117674	0.81[ASN][1000 genomes]
rs1117675	0.82[ASN][1000 genomes]
rs1117677	0.82[ASN][1000 genomes]
rs11741754	0.96[ASN][1000 genomes]
rs11954496	0.83[ASN][1000 genomes]
rs11955398	0.96[ASN][1000 genomes]
rs11956023	0.81[EUR][1000 genomes]
rs12186391	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12514253	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12515025	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12517174	0.95[ASN][1000 genomes]
rs12517207	0.98[ASN][1000 genomes]
rs12522801	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12651791	0.81[ASN][1000 genomes]
rs12655515	0.86[EUR][1000 genomes]
rs12655977	0.82[ASN][1000 genomes]
rs1379114	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379115	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1456742	0.92[ASN][1000 genomes]
rs1456743	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17387940	0.93[ASN][1000 genomes]
rs1824120	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1870014	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1960479	0.82[ASN][1000 genomes]
rs1992612	0.80[ASN][1000 genomes]
rs2085409	0.87[ASN][1000 genomes]
rs2085410	0.83[ASN][1000 genomes]
rs2085411	0.85[ASN][1000 genomes]
rs2085413	0.85[ASN][1000 genomes]
rs2100584	0.87[ASN][1000 genomes]
rs2409792	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2409794	0.87[ASN][1000 genomes]
rs2898288	0.87[ASN][1000 genomes]
rs3899221	0.82[ASN][1000 genomes]
rs4277863	0.80[ASN][1000 genomes]
rs4398599	0.82[ASN][1000 genomes]
rs4400080	0.82[ASN][1000 genomes]
rs4406099	0.80[ASN][1000 genomes]
rs4447941	0.84[ASN][1000 genomes]
rs4524466	0.87[ASN][1000 genomes]
rs4538567	0.84[EUR][1000 genomes]
rs4577661	0.82[ASN][1000 genomes]
rs4700384	0.82[ASN][1000 genomes]
rs4700388	0.81[ASN][1000 genomes]
rs56726435	0.96[ASN][1000 genomes]
rs57521726	0.86[EUR][1000 genomes]
rs6449483	0.86[EUR][1000 genomes]
rs6449485	0.86[EUR][1000 genomes]
rs6449487	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6449490	0.83[ASN][1000 genomes]
rs6449491	0.83[ASN][1000 genomes]
rs6449493	0.80[ASN][1000 genomes]
rs6874072	0.86[EUR][1000 genomes]
rs6882727	0.83[ASN][1000 genomes]
rs6887434	0.82[ASN][1000 genomes]
rs6887637	0.81[ASN][1000 genomes]
rs755077	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7701708	0.85[ASN][1000 genomes]
rs7707698	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7709056	0.81[ASN][1000 genomes]
rs7720233	0.83[ASN][1000 genomes]
rs7730342	0.87[ASN][1000 genomes]
rs7736518	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930864	0.86[ASN][1000 genomes]
rs9654363	0.82[ASN][1000 genomes]
rs9686489	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942410	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv3468468	chr5:59999795-60005493	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3399648	chr5:60000595-60004743	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3468470	chr5:60000720-60004968	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3443840	chr5:60000970-60004693	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv2441489	chr5:60001180-60004589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1798810	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1799240	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1803619	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1820307	chr5:60001832-60012235	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1821893	chr5:60001832-60012235	Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv1823668	chr5:60001832-60012235	Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55854817	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60003400-60005800	Weak transcription	Placenta	Placenta

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