Variant report

Variant	rs73093122
Chromosome Location	chr5:59822193-59822194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr5:59822049-59822758	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:59822177-59822369	A549	lung:	n/a	n/a
3	PML	chr5:59822144-59822742	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE4D-1	chr5:59817878-59822213	XLOC_004839
2	lnc-AC109486.1-1	chr5:59816847-59822245	NONHSAT101638
3	lnc-AC109486.1-1	chr5:59819609-59822275	NONHSAT101640
4	lnc-AC109486.1-1	chr5:59816847-59822245	ENSG00000152931.7

No data

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10516153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878197	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16878201	0.90[AMR][1000 genomes]
rs16878203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16878228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3846458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3846459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3846460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3857233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3857234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4133469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58709164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60446062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73093138	0.90[AMR][1000 genomes]
rs73093141	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73110519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73110526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7719584	0.83[AMR][1000 genomes]
rs7723069	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7737012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv881711	chr5:59724947-59890278	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv598297	chr5:59734004-59862453	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59812800-59822400	Weak transcription	Brain Angular Gyrus	brain
2	chr5:59817800-59829000	Weak transcription	Aorta	Aorta
3	chr5:59818000-59822400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:59818000-59822400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:59818400-59822600	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:59819600-59824800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr5:59819600-59825000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:59820000-59825000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:59820200-59824600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:59821600-59823200	Enhancers	Primary T cells from cord blood	blood
11	chr5:59822000-59822400	Enhancers	Stomach Smooth Muscle	stomach
12	chr5:59822000-59822600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:59822000-59822600	Enhancers	Fetal Thymus	thymus
14	chr5:59822000-59822800	Enhancers	Dnd41	blood
15	chr5:59822000-59823400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:59822000-59823600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:59822000-59823800	Enhancers	Brain Substantia Nigra	brain

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