Variant report

Variant	rs59330168
Chromosome Location	chr22:29591527-29591528
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	POLR2A	chr22:29591492-29592205	K562	blood:	n/a	n/a
2	CTCF	chr22:29591520-29591670	SK-N-SH_RA	brain:	n/a	n/a
3	POLR2A	chr22:29591086-29592605	PBDE	blood:	n/a	n/a
4	GATA1	chr22:29591254-29592275	PBDE	blood:	n/a	chr22:29592037-29592045 chr22:29591666-29591676
5	EP300	chr22:29591344-29592318	K562	blood:	n/a	n/a
6	MAZ	chr22:29591514-29592195	K562	blood:	n/a	chr22:29591963-29591973
7	TRIM28	chr22:29591453-29591912	K562	blood:	n/a	n/a
8	STAT5A	chr22:29591523-29591999	K562	blood:	n/a	n/a
9	CBX3	chr22:29591463-29591951	K562	blood:	n/a	n/a
10	BHLHE40	chr22:29591520-29591940	K562	blood:	n/a	n/a
11	POLR2A	chr22:29591306-29592261	K562	blood:	n/a	n/a
12	GATA2	chr22:29591488-29591980	K562	blood:	n/a	chr22:29591666-29591676
13	CTCF	chr22:29591500-29591650	SK-N-SH_RA	brain:	n/a	n/a
14	ZNF143	chr22:29591102-29592025	K562	blood:	n/a	chr22:29591962-29591980
15	GATA1	chr22:29591397-29592639	K562	blood:	n/a	chr22:29592037-29592045 chr22:29591666-29591676
16	POLR2A	chr22:29591464-29591902	K562	blood:	n/a	n/a
17	POLR2A	chr22:29591423-29591679	GM12878	blood:	n/a	n/a
18	YY1	chr22:29591401-29591764	K562	blood:	n/a	n/a
19	RCOR1	chr22:29591084-29592493	K562	blood:	n/a	n/a
20	MAX	chr22:29591487-29591903	K562	blood:	n/a	n/a
21	POLR2A	chr22:29591498-29591927	K562	blood:	n/a	n/a
22	TEAD4	chr22:29591516-29591922	K562	blood:	n/a	n/a
23	HMGN3	chr22:29591513-29592116	K562	blood:	n/a	n/a
24	YY1	chr22:29591441-29591782	GM12878	blood:	n/a	n/a
25	POLR2A	chr22:29591467-29591994	K562	blood:	n/a	n/a
26	CEBPB	chr22:29591526-29591814	K562	blood:	n/a	n/a
27	JUND	chr22:29591520-29592025	K562	blood:	n/a	n/a
28	CTCF	chr22:29591520-29591670	GM12871	blood:	n/a	n/a
29	NR2F2	chr22:29591468-29592036	K562	blood:	n/a	n/a
30	TBL1XR1	chr22:29591485-29591957	K562	blood:	n/a	n/a
31	RCOR1	chr22:29591093-29592553	K562	blood:	n/a	n/a
32	NR2F2	chr22:29591509-29591983	K562	blood:	n/a	n/a
33	CTCF	chr22:29591505-29591863	K562	blood:	n/a	n/a
34	TEAD4	chr22:29591427-29591997	K562	blood:	n/a	n/a
35	GATA1	chr22:29591459-29591875	PBDEFetal	blood:	n/a	chr22:29591666-29591676
36	CEBPD	chr22:29591491-29592042	K562	blood:	n/a	n/a
37	TAL1	chr22:29591468-29592046	K562	blood:	n/a	n/a
38	ZBTB7A	chr22:29591511-29591887	K562	blood:	n/a	n/a
39	HDAC2	chr22:29591520-29591713	K562	blood:	n/a	n/a
40	YY1	chr22:29591475-29591779	K562	blood:	n/a	n/a
41	GATA2	chr22:29591485-29591913	K562	blood:	n/a	chr22:29591666-29591676
42	MYC	chr22:29591495-29591976	K562	blood:	n/a	chr22:29591963-29591973
43	CCNT2	chr22:29591475-29592017	K562	blood:	n/a	chr22:29591969-29591978

No.	Distal block	Cell Line	Cell type
1	chr22:29581387..29582891-chr22:29590822..29592585,2	K562	blood:
2	chr22:29591219..29593786-chr22:29664964..29667623,2	K562	blood:
3	chr22:29585002..29586598-chr22:29591527..29594079,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1219P	TF binding region
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12159432	1.00[AFR][1000 genomes]
rs12160349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28622069	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28758877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59606405	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59689265	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6006054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60597181	1.00[AMR][1000 genomes]
rs73397096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3418371	chr22:29569447-29595319	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29584600-29591600	Weak transcription	Fetal Muscle Leg	muscle
3	chr22:29584800-29591600	Weak transcription	Brain Germinal Matrix	brain
4	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
5	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
6	chr22:29590600-29593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:29591000-29591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29591000-29591600	Enhancers	K562	blood
9	chr22:29591000-29591800	Enhancers	Spleen	Spleen
10	chr22:29591000-29592400	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:29591000-29592600	Enhancers	Fetal Heart	heart
12	chr22:29591000-29592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr22:29591200-29592000	Enhancers	Right Ventricle	heart
14	chr22:29591200-29592200	Enhancers	Fetal Thymus	thymus
15	chr22:29591200-29592200	Genic enhancers	Dnd41	blood
16	chr22:29591200-29592400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:29591200-29592400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr22:29591200-29592400	Enhancers	Lung	lung
19	chr22:29591200-29592400	Bivalent Enhancer	HepG2	liver
20	chr22:29591200-29592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:29591400-29591600	Genic enhancers	Fetal Intestine Small	intestine
22	chr22:29591400-29591800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:29591400-29592000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:29591400-29592000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:29591400-29592000	Enhancers	Fetal Lung	lung
26	chr22:29591400-29592200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:29591400-29592200	Enhancers	Right Atrium	heart
28	chr22:29591400-29592400	Enhancers	Left Ventricle	heart
29	chr22:29591400-29592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:29591400-29592600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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