Variant report

Variant	rs73399023
Chromosome Location	chr22:29592002-29592003
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	POLR2A	chr22:29591492-29592205	K562	blood:	n/a	n/a
2	RUNX3	chr22:29591707-29592147	GM12878	blood:	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	ZBTB7A	chr22:29591932-29592138	K562	blood:	n/a	n/a
7	MAZ	chr22:29591514-29592195	K562	blood:	n/a	chr22:29591963-29591973
8	CHD2	chr22:29591656-29592050	K562	blood:	n/a	n/a
9	POLR2A	chr22:29591306-29592261	K562	blood:	n/a	n/a
10	ZNF143	chr22:29591102-29592025	K562	blood:	n/a	chr22:29591962-29591980
11	GATA1	chr22:29591397-29592639	K562	blood:	n/a	chr22:29592037-29592045 chr22:29591666-29591676
12	MYC	chr22:29591578-29592365	K562	blood:	n/a	chr22:29591963-29591973
13	RCOR1	chr22:29591084-29592493	K562	blood:	n/a	n/a
14	HMGN3	chr22:29591513-29592116	K562	blood:	n/a	n/a
15	JUND	chr22:29591520-29592025	K562	blood:	n/a	n/a
16	MAX	chr22:29591531-29592042	K562	blood:	n/a	chr22:29591963-29591973
17	NR2F2	chr22:29591468-29592036	K562	blood:	n/a	n/a
18	RCOR1	chr22:29591093-29592553	K562	blood:	n/a	n/a
19	UBTF	chr22:29591573-29592196	K562	blood:	n/a	n/a
20	CEBPD	chr22:29591491-29592042	K562	blood:	n/a	n/a
21	TAL1	chr22:29591468-29592046	K562	blood:	n/a	n/a
22	TBL1XR1	chr22:29591579-29592007	K562	blood:	n/a	n/a
23	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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs58306818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59016854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61615024	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397067	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397085	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397095	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399003	1.00[AMR][1000 genomes]
rs73399007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399012	1.00[AMR][1000 genomes]
rs73399014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399041	1.00[AMR][1000 genomes]
rs73399043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399048	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399052	1.00[AMR][1000 genomes]
rs73399056	1.00[AMR][1000 genomes]
rs73399059	1.00[AMR][1000 genomes]
rs9620871	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
3	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29590600-29593200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:29591000-29592400	Enhancers	Primary hematopoietic stem cells	blood
6	chr22:29591000-29592600	Enhancers	Fetal Heart	heart
7	chr22:29591000-29592800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr22:29591200-29592200	Enhancers	Fetal Thymus	thymus
9	chr22:29591200-29592200	Genic enhancers	Dnd41	blood
10	chr22:29591200-29592400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:29591200-29592400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr22:29591200-29592400	Enhancers	Lung	lung
13	chr22:29591200-29592400	Bivalent Enhancer	HepG2	liver
14	chr22:29591200-29592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29591400-29592200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:29591400-29592200	Enhancers	Right Atrium	heart
17	chr22:29591400-29592400	Enhancers	Left Ventricle	heart
18	chr22:29591400-29592600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:29591400-29592600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:29591600-29592200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr22:29591600-29592200	Enhancers	Fetal Muscle Leg	muscle
22	chr22:29591600-29592200	Flanking Active TSS	K562	blood
23	chr22:29591600-29595800	Weak transcription	Fetal Intestine Small	intestine
24	chr22:29591800-29592200	Flanking Active TSS	Spleen	Spleen
25	chr22:29592000-29592200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:29592000-29592200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29592000-29592200	Bivalent Enhancer	Placenta	Placenta
28	chr22:29592000-29597800	Weak transcription	Fetal Lung	lung

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