Variant report

Variant	rs28620690
Chromosome Location	chr16:71464923-71464924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr16:71464518-71465052	K562	blood:	n/a	n/a
2	CEBPB	chr16:71464600-71464924	K562	blood:	n/a	n/a
3	PML	chr16:71464517-71465094	K562	blood:	n/a	n/a
4	PML	chr16:71464510-71465068	K562	blood:	n/a	n/a
5	POLR2A	chr16:71464573-71465085	K562	blood:	n/a	n/a
6	POLR2A	chr16:71464597-71464985	K562	blood:	n/a	n/a
7	TEAD4	chr16:71464445-71465176	K562	blood:	n/a	n/a
8	POLR2A	chr16:71464682-71464923	K562	blood:	n/a	n/a
9	HMGN3	chr16:71464614-71464977	K562	blood:	n/a	n/a
10	CEBPD	chr16:71464593-71465147	K562	blood:	n/a	n/a
11	GATA2	chr16:71464528-71465041	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
12	MAX	chr16:71464700-71465240	K562	blood:	n/a	chr16:71464795-71464805 chr16:71465002-71465013
13	TEAD4	chr16:71464514-71465087	K562	blood:	n/a	n/a
14	TAF1	chr16:71464717-71464936	K562	blood:	n/a	n/a
15	GATA1	chr16:71464658-71464956	PBDEFetal	blood:	n/a	chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
16	MYC	chr16:71464621-71464963	K562	blood:	n/a	chr16:71464795-71464805
17	TAL1	chr16:71464576-71465097	K562	blood:	n/a	chr16:71464786-71464804 chr16:71464825-71464843
18	TBL1XR1	chr16:71464642-71464963	K562	blood:	n/a	n/a
19	CEBPD	chr16:71464590-71465040	K562	blood:	n/a	n/a
20	TBL1XR1	chr16:71464632-71464990	K562	blood:	n/a	n/a
21	GATA2	chr16:71464589-71465046	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
22	HDAC2	chr16:71464666-71465020	K562	blood:	n/a	n/a
23	GATA1	chr16:71464237-71465185	PBDE	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
24	EP300	chr16:71464598-71465026	K562	blood:	n/a	n/a
25	RCOR1	chr16:71464545-71465051	K562	blood:	n/a	n/a
26	JUND	chr16:71464648-71465064	K562	blood:	n/a	n/a
27	EGR1	chr16:71464627-71464944	K562	blood:	n/a	n/a
28	RCOR1	chr16:71464625-71464978	K562	blood:	n/a	n/a
29	GATA1	chr16:71464476-71465208	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
30	ZMIZ1	chr16:71464628-71464973	K562	blood:	n/a	n/a
31	UBTF	chr16:71464705-71464988	K562	blood:	n/a	n/a
32	CUX1	chr16:71464702-71464948	K562	blood:	n/a	n/a
33	BHLHE40	chr16:71464660-71465023	K562	blood:	n/a	n/a
34	NR2F2	chr16:71464574-71465022	K562	blood:	n/a	n/a
35	CCNT2	chr16:71464543-71464999	K562	blood:	n/a	chr16:71464784-71464804 chr16:71464823-71464843
36	E2F6	chr16:71464888-71465092	K562	blood:	n/a	n/a
37	MAZ	chr16:71464663-71465087	K562	blood:	n/a	chr16:71464795-71464805 chr16:71465002-71465013
38	TRIM28	chr16:71464501-71465080	K562	blood:	n/a	n/a
39	GATA2	chr16:71464553-71465034	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
40	POLR2A	chr16:71464660-71464924	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71462457..71465437-chr16:71470394..71473356,2	MCF-7	breast:
2	chr16:71462837..71465666-chr16:71468747..71470371,2	K562	blood:
3	chr16:71463484..71466764-chr16:71493078..71496827,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261348	TF binding region
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10438561	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13333851	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13336790	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13339307	0.83[AMR][1000 genomes]
rs13339390	0.83[AMR][1000 genomes]
rs28709366	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9930279	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9930642	0.86[AFR][1000 genomes]
rs9933647	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71461200-71467000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71464400-71465200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:71464600-71465200	Flanking Active TSS	K562	blood

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