Variant report

Variant	rs2286548
Chromosome Location	chr19:38860990-38860991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:38860900-38861255	HepG2	liver:	n/a	chr19:38860939-38860948
2	TEAD4	chr19:38860838-38861460	K562	blood:	n/a	n/a
3	MYC	chr19:38860961-38861376	K562	blood:	n/a	n/a
4	POLR2A	chr19:38860956-38861299	K562	blood:	n/a	n/a
5	GATA2	chr19:38860862-38861484	K562	blood:	n/a	chr19:38861049-38861059
6	POLR2A	chr19:38860962-38861243	K562	blood:	n/a	n/a
7	TAL1	chr19:38860914-38861368	K562	blood:	n/a	n/a
8	GATA2	chr19:38860989-38861443	K562	blood:	n/a	chr19:38861049-38861059
9	MXI1	chr19:38860878-38861272	HepG2	liver:	n/a	n/a
10	NR2F2	chr19:38860953-38861349	K562	blood:	n/a	n/a
11	EP300	chr19:38860953-38861254	K562	blood:	n/a	chr19:38861047-38861061
12	PML	chr19:38860836-38861401	K562	blood:	n/a	n/a
13	GABPA	chr19:38860955-38861295	K562	blood:	n/a	n/a
14	MXI1	chr19:38860919-38861261	K562	blood:	n/a	n/a
15	RCOR1	chr19:38860922-38861193	K562	blood:	n/a	n/a
16	GABPA	chr19:38860926-38861438	K562	blood:	n/a	n/a
17	SIN3AK20	chr19:38860897-38861230	K562	blood:	n/a	n/a
18	CEBPD	chr19:38860977-38861369	K562	blood:	n/a	n/a
19	TRIM28	chr19:38860915-38861431	K562	blood:	n/a	n/a
20	MAX	chr19:38860948-38861353	K562	blood:	n/a	n/a
21	TEAD4	chr19:38860900-38861395	K562	blood:	n/a	n/a
22	CEBPD	chr19:38860899-38861440	K562	blood:	n/a	n/a
23	ZMIZ1	chr19:38860946-38861261	K562	blood:	n/a	n/a
24	MAX	chr19:38860817-38861461	K562	blood:	n/a	chr19:38860939-38860948
25	POLR2A	chr19:38860958-38861338	K562	blood:	n/a	n/a
26	MAX	chr19:38860939-38861269	K562	blood:	n/a	chr19:38860939-38860948
27	POLR2A	chr19:38860918-38861377	K562	blood:	n/a	n/a
28	CBX3	chr19:38860889-38861399	K562	blood:	n/a	n/a
29	ETS1	chr19:38860909-38861235	K562	blood:	n/a	n/a
30	MAX	chr19:38860934-38861197	NB4	blood:	n/a	chr19:38860939-38860948

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38728291..38731006-chr19:38860987..38862689,2	K562	blood:
2	chr19:38745762..38747898-chr19:38860453..38862008,2	K562	blood:
3	chr19:38824978..38827447-chr19:38860832..38862469,2	MCF-7	breast:
4	chr19:38860843..38863551-chr19:38863957..38866208,2	MCF-7	breast:
5	chr19:38855795..38857847-chr19:38858914..38861126,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD8	TF binding region
ENSG00000167641	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10153497	1.00[AMR][1000 genomes]
rs1060454	0.92[ASN][1000 genomes]
rs11880285	1.00[AMR][1000 genomes]
rs11881714	1.00[AMR][1000 genomes]
rs2270092	0.92[ASN][1000 genomes]
rs2302185	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2302187	1.00[ASN][1000 genomes]
rs3745953	0.92[ASN][1000 genomes]
rs3786881	0.84[ASN][1000 genomes]
rs3786882	0.84[ASN][1000 genomes]
rs45589333	1.00[AMR][1000 genomes]
rs57249964	1.00[AMR][1000 genomes]
rs57347571	1.00[AMR][1000 genomes]
rs57361474	1.00[AMR][1000 genomes]
rs58247981	1.00[AMR][1000 genomes]
rs58490212	1.00[AMR][1000 genomes]
rs58591078	1.00[AMR][1000 genomes]
rs59047386	1.00[AMR][1000 genomes]
rs59776537	1.00[AMR][1000 genomes]
rs59845491	1.00[AMR][1000 genomes]
rs60068553	1.00[AMR][1000 genomes]
rs60491875	1.00[AMR][1000 genomes]
rs61648033	1.00[AMR][1000 genomes]
rs73043012	0.92[ASN][1000 genomes]
rs73043013	0.92[ASN][1000 genomes]
rs73043014	0.92[ASN][1000 genomes]
rs73043015	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1064275	chr19:38859865-38913251	Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38853800-38864400	Weak transcription	A549	lung
2	chr19:38860400-38861600	Enhancers	K562	blood
3	chr19:38860600-38861400	Enhancers	Duodenum Mucosa	Duodenum
4	chr19:38860800-38861200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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