Variant report

Variant	rs7195767
Chromosome Location	chr16:71464943-71464944
allele	A/G
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	PML	chr16:71464517-71465094	K562	blood:	n/a	n/a
3	PML	chr16:71464510-71465068	K562	blood:	n/a	n/a
4	POLR2A	chr16:71464573-71465085	K562	blood:	n/a	n/a
5	POLR2A	chr16:71464597-71464985	K562	blood:	n/a	n/a
6	TEAD4	chr16:71464445-71465176	K562	blood:	n/a	n/a
7	HMGN3	chr16:71464614-71464977	K562	blood:	n/a	n/a
8	CEBPD	chr16:71464593-71465147	K562	blood:	n/a	n/a
9	GATA2	chr16:71464528-71465041	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
10	MAX	chr16:71464700-71465240	K562	blood:	n/a	chr16:71464795-71464805 chr16:71465002-71465013
11	TEAD4	chr16:71464514-71465087	K562	blood:	n/a	n/a
12	GATA1	chr16:71464658-71464956	PBDEFetal	blood:	n/a	chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
13	MYC	chr16:71464621-71464963	K562	blood:	n/a	chr16:71464795-71464805
14	TAL1	chr16:71464576-71465097	K562	blood:	n/a	chr16:71464786-71464804 chr16:71464825-71464843
15	TBL1XR1	chr16:71464642-71464963	K562	blood:	n/a	n/a
16	CEBPD	chr16:71464590-71465040	K562	blood:	n/a	n/a
17	TBL1XR1	chr16:71464632-71464990	K562	blood:	n/a	n/a
18	GATA2	chr16:71464589-71465046	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
19	HDAC2	chr16:71464666-71465020	K562	blood:	n/a	n/a
20	GATA1	chr16:71464237-71465185	PBDE	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
21	EP300	chr16:71464598-71465026	K562	blood:	n/a	n/a
22	RCOR1	chr16:71464545-71465051	K562	blood:	n/a	n/a
23	JUND	chr16:71464648-71465064	K562	blood:	n/a	n/a
24	EGR1	chr16:71464627-71464944	K562	blood:	n/a	n/a
25	RCOR1	chr16:71464625-71464978	K562	blood:	n/a	n/a
26	GATA1	chr16:71464476-71465208	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804
27	ZMIZ1	chr16:71464628-71464973	K562	blood:	n/a	n/a
28	UBTF	chr16:71464705-71464988	K562	blood:	n/a	n/a
29	CUX1	chr16:71464702-71464948	K562	blood:	n/a	n/a
30	BHLHE40	chr16:71464660-71465023	K562	blood:	n/a	n/a
31	NR2F2	chr16:71464574-71465022	K562	blood:	n/a	n/a
32	CCNT2	chr16:71464543-71464999	K562	blood:	n/a	chr16:71464784-71464804 chr16:71464823-71464843
33	E2F6	chr16:71464888-71465092	K562	blood:	n/a	n/a
34	MAZ	chr16:71464663-71465087	K562	blood:	n/a	chr16:71464795-71464805 chr16:71465002-71465013
35	TRIM28	chr16:71464501-71465080	K562	blood:	n/a	n/a
36	GATA2	chr16:71464553-71465034	K562	blood:	n/a	chr16:71464958-71464969 chr16:71464786-71464793 chr16:71464853-71464861 chr16:71464787-71464804

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
ENSG00000167377	Chromatin interaction
ENSG00000247324	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12708914	1.00[EUR][1000 genomes]
rs12927006	0.87[EUR][1000 genomes]
rs12927456	0.92[EUR][1000 genomes]
rs17280181	0.86[EUR][1000 genomes]
rs17345863	0.88[EUR][1000 genomes]
rs34015581	0.90[EUR][1000 genomes]
rs34380814	0.95[EUR][1000 genomes]
rs34766979	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35394108	0.87[EUR][1000 genomes]
rs35837657	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35981926	0.82[EUR][1000 genomes]
rs36122765	0.91[EUR][1000 genomes]
rs56893224	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71403847	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71403849	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8051974	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8053720	0.93[AMR][1000 genomes];0.80[EUR][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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