Variant report

Variant	rs132367
Chromosome Location	chr22:29601204-29601205
allele	A/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	RCOR1	chr22:29601197-29601741	GM12878	blood:	n/a	n/a
2	ELF1	chr22:29601189-29602113	HCT-116	colon:	n/a	chr22:29601791-29601802
3	RCOR1	chr22:29601063-29602239	K562	blood:	n/a	n/a
4	POLR2A	chr22:29600867-29601254	GM12878	blood:	n/a	n/a
5	TBP	chr22:29599630-29601290	GM12878	blood:	n/a	n/a
6	RUNX3	chr22:29600229-29601429	GM12878	blood:	n/a	n/a
7	MAZ	chr22:29600764-29602981	K562	blood:	n/a	chr22:29601719-29601728
8	RUNX3	chr22:29600916-29601597	GM12878	blood:	n/a	n/a
9	MAZ	chr22:29600577-29602661	GM12878	blood:	n/a	chr22:29601719-29601728
10	MTA3	chr22:29600839-29601520	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:29599562-29605938	PBDE	blood:	n/a	n/a
12	WRNIP1	chr22:29600783-29601493	GM12878	blood:	n/a	n/a
13	STAT5A	chr22:29601067-29601749	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:29597149-29601230	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29600704..29601509-chr22:29641190..29641939,2	MCF-7	breast:
2	chr22:29599772..29601516-chr22:29662820..29665325,2	K562	blood:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs132308	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs132311	0.82[ASN][1000 genomes]
rs132312	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs132313	0.82[ASN][1000 genomes]
rs132314	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs132315	0.82[EUR][1000 genomes]
rs132316	0.82[EUR][1000 genomes]
rs132317	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs132321	0.82[EUR][1000 genomes]
rs132323	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs132341	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132348	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132350	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132351	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132354	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs132363	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs132366	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132369	0.93[GIH][hapmap]
rs132370	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[EUR][1000 genomes]
rs132372	0.95[GIH][hapmap]
rs132373	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132377	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs132378	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs132379	0.92[ASW][hapmap];0.82[CEU][hapmap];0.92[GIH][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs132380	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs132382	1.00[CEU][hapmap]
rs132386	1.00[CEU][hapmap]
rs4380342	0.81[ASN][1000 genomes]
rs469984	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469985	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs713924	1.00[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3344633	chr22:29601102-29603000	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29596400-29601600	Enhancers	Spleen	Spleen
2	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
3	chr22:29597800-29601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
5	chr22:29598400-29601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:29598800-29601400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:29598800-29602000	Weak transcription	Brain Angular Gyrus	brain
8	chr22:29599000-29601400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:29599000-29601400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:29599000-29601400	Weak transcription	Liver	Liver
11	chr22:29599000-29601400	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29599000-29601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:29599000-29601400	Weak transcription	Lung	lung
14	chr22:29599000-29601400	Weak transcription	NH-A	brain
15	chr22:29599000-29601600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:29599000-29601600	Weak transcription	Esophagus	oesophagus
17	chr22:29599000-29601600	Weak transcription	Left Ventricle	heart
18	chr22:29599000-29601600	Weak transcription	Right Atrium	heart
19	chr22:29599200-29601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29599200-29602200	Weak transcription	Small Intestine	intestine
21	chr22:29599400-29601400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr22:29599400-29601400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:29599400-29601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:29599800-29601400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr22:29600000-29601400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr22:29600200-29601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:29600200-29601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:29600200-29601800	Flanking Active TSS	GM12878-XiMat	blood
29	chr22:29600400-29601400	Flanking Active TSS	Fetal Brain Female	brain
30	chr22:29600400-29601600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:29600400-29601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr22:29600400-29602000	Enhancers	Brain Substantia Nigra	brain
33	chr22:29600600-29601400	Enhancers	Fetal Stomach	stomach
34	chr22:29600600-29601400	Bivalent Enhancer	HepG2	liver
35	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:29600800-29601400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr22:29600800-29601400	Enhancers	Pancreas	Pancrea
38	chr22:29600800-29602000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr22:29600800-29603000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr22:29601000-29601400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:29601000-29601400	Enhancers	Adipose Nuclei	Adipose
42	chr22:29601000-29601400	Enhancers	Brain Anterior Caudate	brain
43	chr22:29601000-29601400	Enhancers	Brain Cingulate Gyrus	brain
44	chr22:29601000-29601400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:29601000-29601400	Enhancers	Placenta	Placenta
46	chr22:29601000-29601400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr22:29601000-29601600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
48	chr22:29601000-29601600	Flanking Active TSS	K562	blood
49	chr22:29601000-29601800	Enhancers	Fetal Lung	lung
50	chr22:29601000-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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