Variant report

Variant	rs132364
Chromosome Location	chr22:29599089-29599090
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	FOXP2	chr22:29598731-29599114	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr22:29598274-29599330	GM12892	blood:	n/a	n/a
3	POU2F2	chr22:29598660-29599294	GM12891	blood:	n/a	n/a
4	CEBPB	chr22:29598412-29599415	GM12878	blood:	n/a	n/a
5	NFATC1	chr22:29598207-29599351	GM12878	blood:	n/a	n/a
6	IRF4	chr22:29598668-29599270	GM12878	blood:	n/a	n/a
7	SP1	chr22:29598452-29599358	GM12878	blood:	n/a	chr22:29599008-29599020 chr22:29599008-29599020 chr22:29599009-29599018
8	CTCF	chr22:29598329-29599145	SK-N-SH	brain:	n/a	chr22:29598757-29598778 chr22:29598995-29599004 chr22:29598755-29598773
9	POLR2A	chr22:29598153-29599164	GM12891	blood:	n/a	n/a
10	TBP	chr22:29597380-29599319	GM12878	blood:	n/a	n/a
11	EBF1	chr22:29597644-29599309	GM12878	blood:	n/a	chr22:29598993-29599004 chr22:29597959-29597969 chr22:29597959-29597968
12	SP1	chr22:29598716-29599302	GM12878	blood:	n/a	chr22:29599008-29599020 chr22:29599008-29599020 chr22:29599009-29599018
13	MAX	chr22:29598234-29599194	GM12878	blood:	n/a	n/a
14	RAD21	chr22:29598665-29599152	GM12878	blood:	n/a	chr22:29598998-29599008 chr22:29598756-29598775
15	ZBTB7A	chr22:29598871-29599101	K562	blood:	n/a	n/a
16	RELA	chr22:29598467-29599284	GM15510	blood:	n/a	n/a
17	PML	chr22:29598151-29599507	GM12878	blood:	n/a	n/a
18	RUNX3	chr22:29598191-29599448	GM12878	blood:	n/a	n/a
19	PAX5	chr22:29598794-29599180	GM12878	blood:	n/a	n/a
20	CUX1	chr22:29598332-29600332	GM12878	blood:	n/a	n/a
21	FOXM1	chr22:29598233-29599426	GM12878	blood:	n/a	n/a
22	EBF1	chr22:29598185-29599253	GM12878	blood:	n/a	chr22:29598993-29599004
23	EP300	chr22:29598740-29599291	GM12878	blood:	n/a	n/a
24	MAX	chr22:29598744-29599089	K562	blood:	n/a	n/a
25	CCNT2	chr22:29598854-29599111	K562	blood:	n/a	n/a
26	POU2F2	chr22:29598680-29599238	GM12878	blood:	n/a	n/a
27	BCLAF1	chr22:29598254-29599470	GM12878	blood:	n/a	chr22:29599010-29599023
28	POLR2A	chr22:29598204-29599357	HL-60	blood:	n/a	n/a
29	SMC3	chr22:29598416-29599279	GM12878	blood:	n/a	chr22:29598757-29598771 chr22:29598998-29599008
30	MEF2C	chr22:29598620-29599355	GM12878	blood:	n/a	n/a
31	TCF12	chr22:29598692-29599279	GM12878	blood:	n/a	chr22:29599069-29599078
32	POLR2A	chr22:29598019-29599339	GM18951	blood:	n/a	n/a
33	POLR2A	chr22:29598480-29599348	HL-60	blood:	n/a	n/a
34	PAX5	chr22:29598680-29599267	GM12878	blood:	n/a	n/a
35	BRCA1	chr22:29598487-29599112	GM12878	blood:	n/a	n/a
36	IRF4	chr22:29598288-29599397	GM12878	blood:	n/a	n/a
37	POLR2A	chr22:29598119-29599455	GM12892	blood:	n/a	n/a
38	BCL3	chr22:29598254-29599363	GM12878	blood:	n/a	chr22:29599010-29599023
39	EGR1	chr22:29598862-29599157	GM12878	blood:	n/a	n/a
40	EBF1	chr22:29598042-29599277	GM12878	blood:	n/a	chr22:29598993-29599004
41	STAT1	chr22:29598428-29599211	GM12878	blood:	n/a	chr22:29599120-29599128
42	POLR2A	chr22:29598212-29599300	GM12878	blood:	n/a	n/a
43	POLR2A	chr22:29598222-29599227	GM12891	blood:	n/a	n/a
44	TAF1	chr22:29598710-29599276	GM12878	blood:	n/a	n/a
45	TAF1	chr22:29598713-29599203	GM12891	blood:	n/a	n/a
46	MTA3	chr22:29598117-29599412	GM12878	blood:	n/a	n/a
47	BCL11A	chr22:29598759-29599229	GM12878	blood:	n/a	chr22:29599010-29599023
48	MEF2A	chr22:29598689-29599392	GM12878	blood:	n/a	n/a
49	IKZF1	chr22:29598352-29599430	GM12878	blood:	n/a	n/a
50	EP300	chr22:29598249-29599116	K562	blood:	n/a	chr22:29598511-29598520

No.	Distal block	Cell Line	Cell type
1	chr22:29598263..29599277-chr22:29640793..29642655,17	MCF-7	breast:
2	chr22:29598167..29600634-chr22:29663372..29666044,2	K562	blood:
3	chr22:29598605..29599258-chr22:29640938..29642145,5	MCF-7	breast:
4	chr22:29598698..29599406-chr22:29641204..29641781,2	K562	blood:
5	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	0.90[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	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs132355	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132361	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132362	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132368	0.96[ASN][1000 genomes]
rs132369	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132371	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs132372	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132376	0.97[EUR][1000 genomes]
rs1573711	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[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:84 , 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	chr22:29597000-29601000	Enhancers	Primary hematopoietic stem cells	blood
4	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
5	chr22:29597200-29599200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:29597200-29599600	Enhancers	Fetal Intestine Small	intestine
7	chr22:29597600-29599200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:29597600-29599200	Enhancers	Fetal Stomach	stomach
9	chr22:29597600-29599400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr22:29597600-29599400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:29597600-29599400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr22:29597800-29599200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:29597800-29599200	Enhancers	Fetal Intestine Large	intestine
14	chr22:29597800-29599200	Enhancers	HUVEC	blood vessel
15	chr22:29597800-29599400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr22:29597800-29599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:29597800-29600200	Enhancers	Fetal Muscle Leg	muscle
18	chr22:29597800-29601000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29597800-29601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
21	chr22:29598000-29599200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr22:29598000-29599200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:29598000-29599200	Enhancers	Placenta	Placenta
24	chr22:29598000-29599400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:29598000-29599400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
26	chr22:29598000-29599400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr22:29598000-29599400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:29598000-29599400	Flanking Active TSS	K562	blood
29	chr22:29598200-29599200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:29598200-29599400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr22:29598200-29599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:29598200-29599400	Enhancers	Fetal Brain Male	brain
33	chr22:29598200-29599400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr22:29598200-29600400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:29598200-29600600	Enhancers	Thymus	Thymus
36	chr22:29598200-29600800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr22:29598400-29599200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:29598400-29599200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:29598400-29599400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:29598400-29599400	Flanking Active TSS	GM12878-XiMat	blood
41	chr22:29598400-29601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr22:29598600-29599200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:29598600-29599200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:29598600-29599200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr22:29598600-29599400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr22:29598600-29600000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr22:29598800-29599200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr22:29598800-29599200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr22:29598800-29599200	Enhancers	Small Intestine	intestine
50	chr22:29598800-29599200	Flanking Active TSS	HepG2	liver

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