Variant report

Variant	rs58902211
Chromosome Location	chr22:31218365-31218366
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	CTCF	chr22:31218340-31218490	Caco-2	colon:	n/a	n/a
2	MAX	chr22:31218158-31218693	MCF-7	breast:	n/a	n/a
3	CTCF	chr22:31218360-31218510	AoAF	blood vessel:	n/a	n/a
4	POLR2A	chr22:31217034-31219671	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr22:31218349-31218421	Fibrobl	skin:	n/a	n/a
6	CTCF	chr22:31218320-31218470	HMEC	breast:	n/a	n/a
7	MAX	chr22:31217944-31218678	ECC-1	luminal epithelium:	n/a	n/a
8	MYC	chr22:31218297-31218533	MCF-7	breast:	n/a	n/a
9	BACH1	chr22:31218163-31219233	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr22:31218311-31218662	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr22:31218324-31218773	ECC-1	luminal epithelium:	n/a	chr22:31218513-31218522 chr22:31218410-31218421
12	POLR2A	chr22:31216667-31219322	Hela-S3	cervix:	n/a	n/a
13	MAX	chr22:31218122-31218796	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr22:31218300-31218450	AG04449	skin:	n/a	n/a
15	GATA2	chr22:31217978-31218673	SH-SY5Y	brain:	n/a	n/a
16	HA-E2F1	chr22:31218115-31218668	MCF-7	breast:	n/a	chr22:31218172-31218179 chr22:31218366-31218378 chr22:31218611-31218618 chr22:31218172-31218179 chr22:31218611-31218618 chr22:31218611-31218618 chr22:31218172-31218179 chr22:31218486-31218496
17	ZBTB7A	chr22:31217974-31218756	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr22:31218320-31218470	SK-N-SH_RA	brain:	n/a	n/a
19	POLR2A	chr22:31218285-31218563	H1-neurons	neurons:	n/a	n/a
20	RAD21	chr22:31218146-31218678	ECC-1	luminal epithelium:	n/a	chr22:31218514-31218528 chr22:31218243-31218253
21	ZBTB7A	chr22:31217890-31218697	ECC-1	luminal epithelium:	n/a	n/a
22	CTCF	chr22:31218360-31218510	HRPEpiC	eye:	n/a	n/a
23	MAX	chr22:31218038-31218824	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr22:31218117-31218768	ECC-1	luminal epithelium:	n/a	chr22:31218329-31218339
25	MAX	chr22:31218017-31218673	Hela-S3	cervix:	n/a	n/a
26	ZNF143	chr22:31218301-31218604	H1-hESC	embryonic stem cell:	n/a	chr22:31218469-31218484 chr22:31218515-31218525
27	POLR2A	chr22:31218291-31218538	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31218130..31220095-chr22:31317473..31320044,2	MCF-7	breast:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000235989	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55841013	1.00[AMR][1000 genomes]
rs55858102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56104306	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57021529	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57614295	0.84[ASN][1000 genomes]
rs58198077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58511316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58832459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59786430	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60486108	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61467505	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6518715	1.00[AMR][1000 genomes]
rs6518716	1.00[AMR][1000 genomes]
rs6518717	1.00[AMR][1000 genomes]
rs7284316	0.93[AFR][1000 genomes]
rs7284605	0.84[ASN][1000 genomes]
rs7289612	1.00[AMR][1000 genomes]
rs73402248	1.00[AMR][1000 genomes]
rs73402267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402268	0.84[ASN][1000 genomes]
rs73402291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137788	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31217400-31219400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr22:31217800-31218400	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr22:31217800-31218400	Flanking Active TSS	Brain Hippocampus Middle	brain
4	chr22:31217800-31218400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:31217800-31218400	Flanking Active TSS	Hela-S3	cervix
6	chr22:31217800-31219000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:31217800-31219400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:31218000-31218400	Enhancers	Primary hematopoietic stem cells	blood
12	chr22:31218000-31218400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:31218000-31218400	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr22:31218000-31218400	Bivalent Enhancer	Fetal Lung	lung
15	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	Placenta	Placenta
16	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
17	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
18	chr22:31218000-31218400	Bivalent Enhancer	Spleen	Spleen
19	chr22:31218000-31218400	Enhancers	A549	lung
20	chr22:31218000-31218400	Flanking Active TSS	NHEK	skin
21	chr22:31218000-31218400	Flanking Bivalent TSS/Enh	Osteobl	bone
22	chr22:31218000-31218600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr22:31218000-31218600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:31218000-31218600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:31218000-31218600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
26	chr22:31218000-31218600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr22:31218000-31218600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr22:31218000-31218600	Bivalent Enhancer	Lung	lung
29	chr22:31218000-31218600	Flanking Active TSS	Right Ventricle	heart
30	chr22:31218000-31218600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr22:31218000-31218800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
32	chr22:31218000-31218800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
33	chr22:31218000-31218800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr22:31218000-31218800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr22:31218000-31218800	Bivalent Enhancer	Liver	Liver
36	chr22:31218000-31218800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
37	chr22:31218000-31218800	Enhancers	Fetal Heart	heart
38	chr22:31218000-31218800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr22:31218000-31218800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr22:31218000-31219000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr22:31218000-31219000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr22:31218000-31219000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:31218000-31219000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr22:31218000-31219000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:31218000-31219000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr22:31218000-31219000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
47	chr22:31218000-31219000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr22:31218000-31219000	Flanking Active TSS	HMEC	breast
49	chr22:31218000-31219200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr22:31218000-31219200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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