Variant report

Variant	rs7719726
Chromosome Location	chr5:59949537-59949538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10050803	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10057004	0.87[CHB][hapmap]
rs10805370	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10939857	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10939860	0.81[CEU][hapmap];0.89[TSI][hapmap]
rs10939862	0.89[TSI][hapmap]
rs10939863	0.80[CHB][hapmap]
rs11739209	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11740327	0.87[TSI][hapmap]
rs11745077	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11750609	0.83[AMR][1000 genomes]
rs11948543	0.87[TSI][hapmap]
rs11951950	0.84[EUR][1000 genomes]
rs12514253	0.89[TSI][hapmap]
rs12515025	0.89[TSI][hapmap]
rs12522801	0.81[CEU][hapmap];0.80[JPT][hapmap]
rs12655515	0.92[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13153359	0.80[CHB][hapmap]
rs1379114	0.89[TSI][hapmap]
rs1379116	0.84[JPT][hapmap]
rs1445852	0.84[EUR][1000 genomes]
rs1867702	0.81[EUR][1000 genomes]
rs1870014	0.89[TSI][hapmap]
rs2045356	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2061250	0.87[TSI][hapmap]
rs2409792	0.89[TSI][hapmap]
rs2591636	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs286153	0.88[ASW][hapmap];0.92[CEU][hapmap];0.91[TSI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs286154	0.92[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs286155	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34395679	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3857236	0.87[TSI][hapmap]
rs4307050	0.80[CHB][hapmap]
rs4353978	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4538567	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4700379	0.84[EUR][1000 genomes]
rs4700381	0.82[EUR][1000 genomes]
rs56137970	0.84[EUR][1000 genomes]
rs57521726	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62372964	0.82[EUR][1000 genomes]
rs6449483	0.95[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6449484	0.80[CHB][hapmap]
rs6449485	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6874072	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7704338	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs7719611	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs897672	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	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
3	nsv968916	chr5:59944877-59962647	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv436477	chr5:59946381-59952080	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3397636	chr5:59949095-59953693	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv3470511	chr5:59949415-59952000	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
7	esv3470510	chr5:59949466-59951973	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7719726	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:59933400-59965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:59936600-59961400	Weak transcription	Thymus	Thymus
6	chr5:59936800-59961800	Weak transcription	Fetal Thymus	thymus
7	chr5:59940600-59950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:59942800-59952000	Weak transcription	Dnd41	blood
9	chr5:59942800-59961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:59943400-59952400	Weak transcription	Placenta	Placenta
11	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:59943800-59952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:59944400-59952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:59945000-59961800	Weak transcription	HepG2	liver
15	chr5:59946400-59952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:59948600-59951200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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