Variant report

Variant	rs13173341
Chromosome Location	chr5:88714380-88714381
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:88714138-88714653	K562	blood:	n/a	n/a
2	EP300	chr5:88714042-88714744	K562	blood:	n/a	n/a
3	ZNF384	chr5:88713834-88714478	K562	blood:	n/a	n/a
4	RCOR1	chr5:88714250-88714662	K562	blood:	n/a	n/a
5	TBL1XR1	chr5:88714140-88714620	K562	blood:	n/a	n/a
6	JUND	chr5:88714183-88714762	K562	blood:	n/a	n/a
7	CEBPB	chr5:88714066-88714644	K562	blood:	n/a	n/a
8	MAZ	chr5:88713840-88714421	K562	blood:	n/a	n/a
9	ZNF143	chr5:88714356-88714604	K562	blood:	n/a	n/a
10	RCOR1	chr5:88713910-88714802	K562	blood:	n/a	n/a
11	IRF1	chr5:88714178-88714570	K562	blood:	n/a	n/a
12	PML	chr5:88714055-88714676	K562	blood:	n/a	n/a
13	CREB1	chr5:88714108-88714606	K562	blood:	n/a	n/a
14	PML	chr5:88714053-88714602	K562	blood:	n/a	n/a
15	TEAD4	chr5:88713869-88714762	K562	blood:	n/a	n/a
16	REST	chr5:88713902-88714447	K562	blood:	n/a	n/a
17	JUN	chr5:88714305-88714572	K562	blood:	n/a	n/a
18	MYC	chr5:88714286-88714482	K562	blood:	n/a	n/a
19	CUX1	chr5:88714324-88714466	K562	blood:	n/a	n/a
20	NR2F2	chr5:88714121-88714488	K562	blood:	n/a	n/a
21	BHLHE40	chr5:88714304-88714598	K562	blood:	n/a	n/a
22	CEBPD	chr5:88714043-88714621	K562	blood:	n/a	n/a
23	CCNT2	chr5:88714151-88714592	K562	blood:	n/a	n/a
24	TEAD4	chr5:88713863-88714616	K562	blood:	n/a	n/a
25	NR2F2	chr5:88713999-88714658	K562	blood:	n/a	n/a
26	MAFK	chr5:88714188-88714508	K562	blood:	n/a	n/a
27	ZMIZ1	chr5:88714183-88714489	K562	blood:	n/a	n/a
28	POLR2A	chr5:88714274-88714443	ProgFib	skin:	n/a	n/a
29	TRIM28	chr5:88714048-88714675	K562	blood:	n/a	n/a
30	EGR1	chr5:88714290-88714673	K562	blood:	n/a	n/a
31	POLR2A	chr5:88714152-88714416	K562	blood:	n/a	n/a
32	CEBPB	chr5:88714222-88714602	K562	blood:	n/a	n/a
33	TAL1	chr5:88714031-88714771	K562	blood:	n/a	n/a
34	GATA1	chr5:88713851-88714745	K562	blood:	n/a	n/a
35	HDAC2	chr5:88714266-88714567	K562	blood:	n/a	n/a
36	CEBPD	chr5:88714013-88714583	K562	blood:	n/a	n/a
37	CBX3	chr5:88713830-88714776	K562	blood:	n/a	n/a
38	ARID3A	chr5:88714173-88714574	K562	blood:	n/a	n/a
39	ATF1	chr5:88714293-88714771	K562	blood:	n/a	n/a
40	POLR2A	chr5:88714052-88714557	K562	blood:	n/a	n/a
41	STAT5A	chr5:88714046-88714679	K562	blood:	n/a	n/a
42	GATA2	chr5:88714139-88714574	K562	blood:	n/a	n/a
43	MAFF	chr5:88714203-88714431	K562	blood:	n/a	n/a
44	STAT5A	chr5:88714128-88714520	K562	blood:	n/a	n/a
45	GABPA	chr5:88714152-88714533	K562	blood:	n/a	n/a
46	GATA2	chr5:88714002-88714652	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
MEF2C-AS1	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13152996	0.87[EUR][1000 genomes]
rs13184230	1.00[EUR][1000 genomes]
rs34402932	0.87[EUR][1000 genomes]
rs34658690	0.82[EUR][1000 genomes]
rs34719591	0.86[EUR][1000 genomes]
rs35242886	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35307872	0.86[EUR][1000 genomes]
rs35700159	0.87[EUR][1000 genomes]
rs58777711	0.82[EUR][1000 genomes]
rs6452819	0.86[EUR][1000 genomes]
rs71629710	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7731614	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv598927	chr5:88647766-88780868	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
6	nsv830389	chr5:88669984-88860383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv882357	chr5:88677293-88774328	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
8	nsv882358	chr5:88677293-88776034	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
9	nsv882359	chr5:88710519-88785384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88713400-88717600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:88713600-88715000	Enhancers	K562	blood
3	chr5:88713800-88714800	Enhancers	Primary monocytes fromperipheralblood	blood

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