Variant report

Variant	rs6894929
Chromosome Location	chr5:59193517-59193518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:59193425-59193542	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59193490-59193540	CMK	blood:	n/a
2	chr5:59193490-59193540	SAEC	small airway:	n/a
3	chr5:59193490-59193540	MCF-7	breast:	n/a
4	chr5:59193490-59193540	GM19239	blood:	n/a
5	chr5:59193490-59193540	NHBE	bronchial:	n/a
6	chr5:59193490-59193540	GM06990	blood:	n/a
7	chr5:59193490-59193540	LNCaP	prostate:	n/a
8	chr5:59193490-59193540	A549	lung:	n/a
9	chr5:59193490-59193540	HCT-116	colon:	n/a
10	chr5:59193490-59193540	PANC-1	pancreas:	n/a
11	chr5:59193490-59193540	HEK293	kidney:	embryo
12	chr5:59193490-59193540	HUVEC	blood vessel:	n/a
13	chr5:59193490-59193540	AG04449	skin:	fetal
14	chr5:59193490-59193540	HRPEpiC	eye:	n/a
15	chr5:59193490-59193540	SKMC	muscle:	n/a
16	chr5:59193490-59193540	PFSK-1	brain:	n/a
17	chr5:59193490-59193540	HL-60	blood:	n/a
18	chr5:59193490-59193540	BE2_C	brain:	n/a
19	chr5:59193490-59193540	HPAEpiC	pulmonary alveolar:	n/a
20	chr5:59193490-59193540	AoSMC	blood vessel:	n/a
21	chr5:59193490-59193540	GM12878	blood:	n/a
22	chr5:59193490-59193540	ovcar-3	ovarian:	n/a
23	chr5:59193490-59193540	HIPEpiC	eye:	n/a
24	chr5:59193490-59193540	GM12892	blood:	n/a
25	chr5:59193490-59193540	HEEpiC	esophagus:	n/a
26	chr5:59193490-59193540	AG04450	lung:	fetal
27	chr5:59193490-59193540	NB4	blood:	n/a
28	chr5:59193490-59193540	PrEC	prostate:	n/a
29	chr5:59193490-59193540	HRCEpiC	kidney:	n/a
30	chr5:59193490-59193540	SK-N-SH	brain:	n/a
31	chr5:59193490-59193540	H1-hESC	embryonic stem cell:	embryo
32	chr5:59193490-59193540	T-47D	breast:	n/a
33	chr5:59193490-59193540	HCF	heart:	n/a
34	chr5:59193490-59193540	RPTEC	kidney:	n/a
35	chr5:59193490-59193540	NHDF-neo	bronchial:	n/a
36	chr5:59193490-59193540	Hela-S3	cervix:	n/a
37	chr5:59193490-59193540	HRE	kidney:	n/a
38	chr5:59193490-59193540	HCM	heart:	n/a
39	chr5:59193490-59193540	MCF10A-Er-Src	breast:	n/a
40	chr5:59193490-59193540	Caco-2	colon:	n/a
41	chr5:59193490-59193540	Hepatocyte	liver:	n/a
42	chr5:59193490-59193540	U87	brain:	n/a
43	chr5:59193490-59193540	AG09319	gingival:	n/a
44	chr5:59193490-59193540	SK-N-MC	brain:	n/a
45	chr5:59193490-59193540	Jurkat	blood:	n/a
46	chr5:59193490-59193540	GM12891	blood:	n/a
47	chr5:59193490-59193540	HMEC	breast:	n/a
48	chr5:59193490-59193540	ProgFib	skin:	n/a
49	chr5:59193490-59193540	NH-A	brain:	n/a
50	chr5:59193490-59193540	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
PDE4D	TF binding region
PDE4D	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10940653	0.85[YRI][hapmap]
rs16890345	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs16890422	0.85[YRI][hapmap]
rs57781707	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58105291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869787	0.85[YRI][hapmap]
rs73099568	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099587	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099594	0.81[AFR][1000 genomes]
rs73099598	0.89[AFR][1000 genomes]
rs7700565	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	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
5	nsv1018431	chr5:59191099-59265363	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1034311	chr5:59193517-59257171	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59193000-59200800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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