Variant report

Variant	rs3846486
Chromosome Location	chr5:68763549-68763550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr5:68762910-68764011	GM12878	blood:	n/a	n/a
2	CREB1	chr5:68763222-68764092	GM12878	blood:	n/a	n/a
3	EP300	chr5:68763122-68763959	GM12878	blood:	n/a	n/a
4	BCLAF1	chr5:68762910-68763992	GM12878	blood:	n/a	n/a
5	MXI1	chr5:68763369-68763875	GM12878	blood:	n/a	n/a
6	STAT5A	chr5:68763291-68763980	GM12878	blood:	n/a	n/a
7	RCOR1	chr5:68763365-68763884	GM12878	blood:	n/a	n/a
8	POU2F2	chr5:68763427-68763840	GM12878	blood:	n/a	n/a
9	ATF2	chr5:68763096-68764009	GM12878	blood:	n/a	n/a
10	SPI1	chr5:68763275-68763971	GM12891	blood:	n/a	n/a
11	BCL11A	chr5:68763294-68763814	GM12878	blood:	n/a	n/a
12	MEF2A	chr5:68763246-68763951	GM12878	blood:	n/a	n/a
13	CREB1	chr5:68763166-68764068	GM12878	blood:	n/a	n/a
14	POU2F2	chr5:68763408-68763945	GM12891	blood:	n/a	n/a
15	BHLHE40	chr5:68763338-68763899	GM12878	blood:	n/a	n/a
16	PAX5	chr5:68763532-68763816	GM12878	blood:	n/a	n/a
17	RUNX3	chr5:68762627-68764032	GM12878	blood:	n/a	n/a
18	PML	chr5:68762967-68764071	GM12878	blood:	n/a	n/a
19	NFATC1	chr5:68763249-68764017	GM12878	blood:	n/a	n/a
20	EP300	chr5:68763475-68763945	GM12878	blood:	n/a	n/a
21	PAX5	chr5:68763401-68763904	GM12891	blood:	n/a	n/a
22	SP1	chr5:68763442-68763973	GM12878	blood:	n/a	n/a
23	FOXM1	chr5:68762997-68764053	GM12878	blood:	n/a	n/a
24	BCL3	chr5:68763144-68763979	GM12878	blood:	n/a	n/a
25	BCLAF1	chr5:68763268-68764024	GM12878	blood:	n/a	n/a
26	EP300	chr5:68763528-68763860	GM12878	blood:	n/a	n/a
27	CEBPB	chr5:68763279-68764034	GM12878	blood:	n/a	n/a
28	MAFK	chr5:68763404-68763592	HepG2	liver:	n/a	chr5:68763452-68763469
29	MEF2C	chr5:68763309-68763902	GM12878	blood:	n/a	n/a
30	BATF	chr5:68763427-68763791	GM12878	blood:	n/a	chr5:68763454-68763467
31	IRF4	chr5:68763349-68763956	GM12878	blood:	n/a	n/a
32	IKZF1	chr5:68763161-68764025	GM12878	blood:	n/a	n/a
33	MAFK	chr5:68763380-68763611	HepG2	liver:	n/a	chr5:68763452-68763469
34	STAT3	chr5:68763307-68763926	GM12878	blood:	n/a	n/a
35	FOXM1	chr5:68763027-68764079	GM12878	blood:	n/a	n/a
36	MTA3	chr5:68763203-68764068	GM12878	blood:	n/a	n/a
37	TBL1XR1	chr5:68763359-68763820	GM12878	blood:	n/a	n/a
38	POU2F2	chr5:68763534-68763928	GM12891	blood:	n/a	n/a
39	MEF2A	chr5:68763230-68764026	GM12878	blood:	n/a	n/a
40	IRF4	chr5:68763192-68764005	GM12878	blood:	n/a	n/a
41	BCL11A	chr5:68763509-68763850	GM12878	blood:	n/a	n/a
42	NFATC1	chr5:68763190-68764043	GM12878	blood:	n/a	n/a
43	SPI1	chr5:68763524-68763806	GM12878	blood:	n/a	n/a
44	SP1	chr5:68763386-68764024	GM12878	blood:	n/a	n/a
45	NFIC	chr5:68763094-68764018	GM12878	blood:	n/a	n/a
46	SPI1	chr5:68763533-68763997	GM12878	blood:	n/a	n/a
47	POU2F2	chr5:68763536-68763842	GM12878	blood:	n/a	n/a
48	TBP	chr5:68763396-68763855	GM12878	blood:	n/a	n/a
49	MTA3	chr5:68762910-68764101	GM12878	blood:	n/a	n/a
50	STAT1	chr5:68763426-68763828	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	chr5:68761505..68763661-chr5:68787066..68788610,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS27P14	TF binding region
ENSG00000197822	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28366566	0.95[EUR][1000 genomes]
rs28565505	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28635172	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28648588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650846	0.95[ASN][1000 genomes]
rs28652932	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274940	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4416560	0.95[EUR][1000 genomes]
rs57859685	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60807929	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73116811	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73116814	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018410	chr5:68692244-68822384	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1023116	chr5:68744307-68867282	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1034024	chr5:68760271-69118123	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68757000-68768000	Weak transcription	Stomach Mucosa	stomach
2	chr5:68763000-68764600	Flanking Active TSS	GM12878-XiMat	blood

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