Variant report

Variant	rs132361
Chromosome Location	chr22:29598422-29598423
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	chr22:29598195-29599023	K562	blood:	n/a	n/a
2	POLR2A	chr22:29598274-29599330	GM12892	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	CEBPB	chr22:29598412-29599415	GM12878	blood:	n/a	n/a
6	NFATC1	chr22:29598207-29599351	GM12878	blood:	n/a	n/a
7	CTCF	chr22:29598329-29599145	SK-N-SH	brain:	n/a	chr22:29598757-29598778 chr22:29598995-29599004 chr22:29598755-29598773
8	POLR2A	chr22:29598153-29599164	GM12891	blood:	n/a	n/a
9	TBP	chr22:29597380-29599319	GM12878	blood:	n/a	n/a
10	EBF1	chr22:29597644-29599309	GM12878	blood:	n/a	chr22:29598993-29599004 chr22:29597959-29597969 chr22:29597959-29597968
11	FOXA1	chr22:29598376-29598789	HepG2	liver:	n/a	chr22:29598487-29598499
12	ETS1	chr22:29598235-29598477	K562	blood:	n/a	n/a
13	MAX	chr22:29598234-29599194	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:29598357-29598669	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr22:29598290-29598741	K562	blood:	n/a	n/a
16	PML	chr22:29598151-29599507	GM12878	blood:	n/a	n/a
17	RUNX3	chr22:29598191-29599448	GM12878	blood:	n/a	n/a
18	CUX1	chr22:29598332-29600332	GM12878	blood:	n/a	n/a
19	FOXM1	chr22:29598233-29599426	GM12878	blood:	n/a	n/a
20	EBF1	chr22:29598185-29599253	GM12878	blood:	n/a	chr22:29598993-29599004
21	YY1	chr22:29597963-29598459	GM12878	blood:	n/a	chr22:29598265-29598284
22	ELF1	chr22:29598308-29598624	K562	blood:	n/a	n/a
23	BCLAF1	chr22:29598254-29599470	GM12878	blood:	n/a	chr22:29599010-29599023
24	POLR2A	chr22:29598204-29599357	HL-60	blood:	n/a	n/a
25	SMC3	chr22:29598416-29599279	GM12878	blood:	n/a	chr22:29598757-29598771 chr22:29598998-29599008
26	POLR2A	chr22:29598019-29599339	GM18951	blood:	n/a	n/a
27	IRF4	chr22:29598288-29599397	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:29598119-29599455	GM12892	blood:	n/a	n/a
29	BCL3	chr22:29598254-29599363	GM12878	blood:	n/a	chr22:29599010-29599023
30	EBF1	chr22:29598042-29599277	GM12878	blood:	n/a	chr22:29598993-29599004
31	POLR2A	chr22:29598212-29599300	GM12878	blood:	n/a	n/a
32	POLR2A	chr22:29598222-29599227	GM12891	blood:	n/a	n/a
33	MTA3	chr22:29598117-29599412	GM12878	blood:	n/a	n/a
34	TCF12	chr22:29598249-29598538	GM12878	blood:	n/a	n/a
35	REST	chr22:29598234-29598427	K562	blood:	n/a	n/a
36	IKZF1	chr22:29598352-29599430	GM12878	blood:	n/a	n/a
37	EP300	chr22:29598249-29599116	K562	blood:	n/a	chr22:29598511-29598520
38	POLR2A	chr22:29598271-29599334	GM12891	blood:	n/a	n/a
39	MXI1	chr22:29598272-29598433	K562	blood:	n/a	n/a
40	POLR2A	chr22:29598137-29599436	GM12892	blood:	n/a	n/a
41	JUND	chr22:29598295-29598992	K562	blood:	n/a	n/a
42	WRNIP1	chr22:29598120-29599282	GM12878	blood:	n/a	n/a
43	RELA	chr22:29598341-29599345	GM19193	blood:	n/a	n/a
44	ATF2	chr22:29598245-29599384	GM12878	blood:	n/a	n/a
45	MYC	chr22:29598211-29598944	K562	blood:	n/a	n/a
46	RELA	chr22:29598272-29599369	GM19099	blood:	n/a	n/a
47	POLR2A	chr22:29598343-29599280	GM12878	blood:	n/a	n/a
48	ATF2	chr22:29598302-29599397	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr22:29598291-29598936	K562	blood:	n/a	n/a
50	MTA3	chr22:29597845-29599432	GM12878	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
ENSG00000100263	Chromatin interaction
ENSG00000182944	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];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132362	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132364	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132368	0.96[ASN][1000 genomes]
rs132369	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132371	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132372	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs132376	0.99[EUR][1000 genomes]
rs1573711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29594800-29600800	Weak transcription	Pancreas	Pancrea
2	chr22:29596400-29601600	Enhancers	Spleen	Spleen
3	chr22:29597000-29598800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr22:29597000-29601000	Enhancers	Primary hematopoietic stem cells	blood
5	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
6	chr22:29597200-29598800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:29597200-29599200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29597200-29599600	Enhancers	Fetal Intestine Small	intestine
9	chr22:29597600-29598600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:29597600-29599200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29597600-29599200	Enhancers	Fetal Stomach	stomach
12	chr22:29597600-29599400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr22:29597600-29599400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:29597600-29599400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr22:29597800-29598600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr22:29597800-29598600	Weak transcription	Fetal Kidney	kidney
17	chr22:29597800-29598600	Enhancers	Fetal Lung	lung
18	chr22:29597800-29598800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr22:29597800-29598800	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:29597800-29598800	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr22:29597800-29599000	Enhancers	Primary T cells from cord blood	blood
22	chr22:29597800-29599000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:29597800-29599000	Enhancers	Right Ventricle	heart
24	chr22:29597800-29599000	Enhancers	Stomach Mucosa	stomach
25	chr22:29597800-29599200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:29597800-29599200	Enhancers	Fetal Intestine Large	intestine
27	chr22:29597800-29599200	Enhancers	HUVEC	blood vessel
28	chr22:29597800-29599400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr22:29597800-29599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:29597800-29600200	Enhancers	Fetal Muscle Leg	muscle
31	chr22:29597800-29601000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29597800-29601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
34	chr22:29598000-29598600	Enhancers	Small Intestine	intestine
35	chr22:29598000-29598800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:29598000-29598800	Enhancers	Brain Angular Gyrus	brain
37	chr22:29598000-29599000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr22:29598000-29599000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr22:29598000-29599000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr22:29598000-29599000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr22:29598000-29599000	Enhancers	Adipose Nuclei	Adipose
42	chr22:29598000-29599000	Enhancers	Left Ventricle	heart
43	chr22:29598000-29599000	Enhancers	Right Atrium	heart
44	chr22:29598000-29599200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr22:29598000-29599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:29598000-29599200	Enhancers	Placenta	Placenta
47	chr22:29598000-29599400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:29598000-29599400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr22:29598000-29599400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr22:29598000-29599400	Enhancers	Skeletal Muscle Female	skeletal muscle

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