Variant report

Variant	rs1573711
Chromosome Location	chr22:29598263-29598264
allele	G/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	MAX	chr22:29598236-29598384	K562	blood:	n/a	n/a
2	POLR2A	chr22:29598195-29599023	K562	blood:	n/a	n/a
3	EP300	chr22:29598255-29598504	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:29598257-29598609	K562	blood:	n/a	n/a
5	NFATC1	chr22:29598207-29599351	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:29598153-29599164	GM12891	blood:	n/a	n/a
7	TBP	chr22:29597380-29599319	GM12878	blood:	n/a	n/a
8	EBF1	chr22:29597644-29599309	GM12878	blood:	n/a	chr22:29598993-29599004 chr22:29597959-29597969 chr22:29597959-29597968
9	POLR2A	chr22:29598249-29598301	GM12878	blood:	n/a	n/a
10	ETS1	chr22:29598235-29598477	K562	blood:	n/a	n/a
11	MAX	chr22:29598234-29599194	GM12878	blood:	n/a	n/a
12	PML	chr22:29598151-29599507	GM12878	blood:	n/a	n/a
13	YY1	chr22:29598028-29598408	K562	blood:	n/a	chr22:29598265-29598284
14	RUNX3	chr22:29598191-29599448	GM12878	blood:	n/a	n/a
15	FOXM1	chr22:29598233-29599426	GM12878	blood:	n/a	n/a
16	EBF1	chr22:29598185-29599253	GM12878	blood:	n/a	chr22:29598993-29599004
17	YY1	chr22:29597963-29598459	GM12878	blood:	n/a	chr22:29598265-29598284
18	BCLAF1	chr22:29598254-29599470	GM12878	blood:	n/a	chr22:29599010-29599023
19	POLR2A	chr22:29598204-29599357	HL-60	blood:	n/a	n/a
20	POLR2A	chr22:29598019-29599339	GM18951	blood:	n/a	n/a
21	POLR2A	chr22:29598119-29599455	GM12892	blood:	n/a	n/a
22	BCL3	chr22:29598254-29599363	GM12878	blood:	n/a	chr22:29599010-29599023
23	EBF1	chr22:29598042-29599277	GM12878	blood:	n/a	chr22:29598993-29599004
24	POLR2A	chr22:29598212-29599300	GM12878	blood:	n/a	n/a
25	POLR2A	chr22:29598222-29599227	GM12891	blood:	n/a	n/a
26	MTA3	chr22:29598117-29599412	GM12878	blood:	n/a	n/a
27	TCF12	chr22:29598249-29598538	GM12878	blood:	n/a	n/a
28	REST	chr22:29598234-29598427	K562	blood:	n/a	n/a
29	EP300	chr22:29598249-29599116	K562	blood:	n/a	chr22:29598511-29598520
30	POLR2A	chr22:29598137-29599436	GM12892	blood:	n/a	n/a
31	WRNIP1	chr22:29598120-29599282	GM12878	blood:	n/a	n/a
32	ATF2	chr22:29598245-29599384	GM12878	blood:	n/a	n/a
33	MYC	chr22:29598211-29598944	K562	blood:	n/a	n/a
34	MTA3	chr22:29597845-29599432	GM12878	blood:	n/a	n/a
35	NFIC	chr22:29598198-29599872	GM12878	blood:	n/a	n/a
36	GATA1	chr22:29598010-29599092	PBDE	blood:	n/a	chr22:29598718-29598735 chr22:29598509-29598519
37	FOXM1	chr22:29598263-29599381	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:29597760-29599351	GM19193	blood:	n/a	n/a
39	POLR2A	chr22:29598040-29599415	GM12891	blood:	n/a	n/a
40	MAFK	chr22:29598133-29598338	K562	blood:	n/a	chr22:29598169-29598184
41	BCLAF1	chr22:29598192-29599296	GM12878	blood:	n/a	chr22:29599010-29599023
42	POLR2A	chr22:29598129-29599206	NB4	blood:	n/a	n/a
43	POLR2A	chr22:29597525-29599320	PBDE	blood:	n/a	n/a
44	MAZ	chr22:29598179-29599279	IMR90	lung:	n/a	n/a
45	POLR2A	chr22:29598222-29599058	GM12878	blood:	n/a	n/a
46	MAFK	chr22:29598083-29598283	HepG2	liver:	n/a	chr22:29598169-29598184
47	PAX5	chr22:29598138-29599364	GM12878	blood:	n/a	n/a
48	CHD2	chr22:29598252-29599313	GM12878	blood:	n/a	n/a
49	BATF	chr22:29598215-29598576	GM12878	blood:	n/a	n/a
50	RCOR1	chr22:29598236-29599034	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29598263..29599277-chr22:29640793..29642655,17	MCF-7	breast:
2	chr22:29588962..29590714-chr22:29595745..29598495,3	K562	blood:
3	chr22:29598167..29600634-chr22:29663372..29666044,2	K562	blood:
4	chr22:29289372..29291896-chr22:29597783..29600686,2	MCF-7	breast:

Variant related genes	Relation type
EMID1	TF binding region
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs132326	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs132335	0.86[ASN][1000 genomes]
rs132337	0.89[ASN][1000 genomes]
rs132339	0.93[ASN][1000 genomes]
rs132346	0.96[ASN][1000 genomes]
rs132347	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs132355	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132362	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132364	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132368	0.96[ASN][1000 genomes]
rs132369	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132371	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132372	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs132376	0.96[EUR][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	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
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29594800-29600800	Weak transcription	Pancreas	Pancrea
3	chr22:29596400-29601600	Enhancers	Spleen	Spleen
4	chr22:29597000-29598800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr22:29597000-29601000	Enhancers	Primary hematopoietic stem cells	blood
6	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
7	chr22:29597200-29598800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29597200-29599200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:29597200-29599600	Enhancers	Fetal Intestine Small	intestine
10	chr22:29597600-29598400	Enhancers	Duodenum Mucosa	Duodenum
11	chr22:29597600-29598600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:29597600-29599200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29597600-29599200	Enhancers	Fetal Stomach	stomach
14	chr22:29597600-29599400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr22:29597600-29599400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:29597600-29599400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr22:29597800-29598600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr22:29597800-29598600	Weak transcription	Fetal Kidney	kidney
19	chr22:29597800-29598600	Enhancers	Fetal Lung	lung
20	chr22:29597800-29598800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr22:29597800-29598800	Enhancers	Brain Cingulate Gyrus	brain
22	chr22:29597800-29598800	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr22:29597800-29599000	Enhancers	Primary T cells from cord blood	blood
24	chr22:29597800-29599000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr22:29597800-29599000	Enhancers	Right Ventricle	heart
26	chr22:29597800-29599000	Enhancers	Stomach Mucosa	stomach
27	chr22:29597800-29599200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:29597800-29599200	Enhancers	Fetal Intestine Large	intestine
29	chr22:29597800-29599200	Enhancers	HUVEC	blood vessel
30	chr22:29597800-29599400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr22:29597800-29599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr22:29597800-29600200	Enhancers	Fetal Muscle Leg	muscle
33	chr22:29597800-29601000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29597800-29601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
36	chr22:29598000-29598400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr22:29598000-29598400	Enhancers	Esophagus	oesophagus
38	chr22:29598000-29598400	Enhancers	GM12878-XiMat	blood
39	chr22:29598000-29598600	Enhancers	Small Intestine	intestine
40	chr22:29598000-29598800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr22:29598000-29598800	Enhancers	Brain Angular Gyrus	brain
42	chr22:29598000-29599000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr22:29598000-29599000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr22:29598000-29599000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:29598000-29599000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr22:29598000-29599000	Enhancers	Adipose Nuclei	Adipose
47	chr22:29598000-29599000	Enhancers	Left Ventricle	heart
48	chr22:29598000-29599000	Enhancers	Right Atrium	heart
49	chr22:29598000-29599200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr22:29598000-29599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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