Variant report

Variant	rs7705703
Chromosome Location	chr5:59819054-59819055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:59817281-59819093	GM12878	blood:	n/a	n/a
2	EP300	chr5:59819049-59819148	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:59815917-59819247	GM12891	blood:	n/a	n/a
4	CUX1	chr5:59819033-59819091	GM12878	blood:	n/a	n/a
5	MXI1	chr5:59818951-59819075	GM12878	blood:	n/a	n/a
6	MAX	chr5:59818008-59819090	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:59816728-59819416	Raji	blood:	n/a	n/a
8	TBL1XR1	chr5:59816820-59819086	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:59815887-59819309	GM18505	blood:	n/a	n/a
10	SPI1	chr5:59818941-59819216	GM12878	blood:	n/a	n/a
11	MTA3	chr5:59815841-59819241	GM12878	blood:	n/a	n/a
12	WRNIP1	chr5:59819050-59819239	GM12878	blood:	n/a	n/a
13	EP300	chr5:59819026-59819313	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59801403..59803161-chr5:59818355..59820086,2	MCF-7	breast:

(count:3 , 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	chr5:59816847-59822245	ENSG00000152931.7

No data

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10051380	1.00[EUR][1000 genomes]
rs10071249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078847	1.00[EUR][1000 genomes]
rs16877970	1.00[EUR][1000 genomes]
rs16877985	1.00[EUR][1000 genomes]
rs6449469	1.00[EUR][1000 genomes]
rs6870606	1.00[EUR][1000 genomes]
rs6886142	1.00[EUR][1000 genomes]
rs7712059	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7705703	NRIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59812800-59822400	Weak transcription	Brain Angular Gyrus	brain
2	chr5:59814000-59819600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:59815800-59820600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr5:59816600-59819600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:59817000-59822000	Weak transcription	Fetal Thymus	thymus
6	chr5:59817400-59822000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:59817600-59819200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:59817800-59819400	Enhancers	NH-A	brain
9	chr5:59817800-59819600	Enhancers	Stomach Smooth Muscle	stomach
10	chr5:59817800-59820000	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:59817800-59829000	Weak transcription	Aorta	Aorta
12	chr5:59818000-59819200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:59818000-59822000	Weak transcription	Dnd41	blood
14	chr5:59818000-59822400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:59818000-59822400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:59818200-59819400	Enhancers	Fetal Stomach	stomach
17	chr5:59818200-59819800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:59818200-59819800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:59818400-59819600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:59818400-59820200	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:59818400-59821000	Weak transcription	HepG2	liver
22	chr5:59818400-59822600	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:59818600-59819400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:59818600-59819400	Enhancers	Placenta	Placenta
25	chr5:59818600-59819400	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:59818600-59821600	Weak transcription	Primary T cells from cord blood	blood
27	chr5:59818800-59819400	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:59818800-59819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:59818800-59819600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:59818800-59820200	Enhancers	Primary B cells from cord blood	blood
31	chr5:59818800-59820200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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