Variant report

Variant	rs572759413
Chromosome Location	chr22:31090077-31090078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31090071-31090579	HCT-116	colon:	n/a	n/a
2	REST	chr22:31089789-31091468	H1-neurons	neurons:	n/a	n/a
3	TCF12	chr22:31089930-31090603	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr22:31090045-31090659	ECC-1	luminal epithelium:	n/a	chr22:31090347-31090356
5	RUNX3	chr22:31090069-31090480	GM12878	blood:	n/a	n/a
6	FOXA2	chr22:31090056-31090452	A549	lung:	n/a	n/a
7	YY1	chr22:31090065-31090568	ECC-1	luminal epithelium:	n/a	chr22:31090347-31090356
8	POLR2A	chr22:31090009-31090956	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:31090050-31090592	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOXA2	chr22:31090010-31090356	A549	lung:	n/a	n/a
11	EBF1	chr22:31090075-31090602	GM12878	blood:	n/a	n/a
12	YY1	chr22:31090076-31090703	SK-N-SH_RA	brain:	n/a	chr22:31090347-31090356
13	CHD1	chr22:31090073-31090273	H1-hESC	embryonic stem cell:	n/a	n/a
14	TAF1	chr22:31090033-31090662	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr22:31090052-31090594	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr22:31090018-31090411	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr22:31090065-31090598	A549	lung:	n/a	chr22:31090347-31090356
18	TCF12	chr22:31089977-31090650	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr22:31089913-31090704	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr22:31089995-31090570	GM12878	blood:	n/a	chr22:31090347-31090356
21	HA-E2F1	chr22:31089961-31090699	MCF-7	breast:	n/a	chr22:31090347-31090356
22	POLR2A	chr22:31090037-31091162	ECC-1	luminal epithelium:	n/a	n/a
23	ATF2	chr22:31090028-31090338	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr22:31090053-31090778	HCT-116	colon:	n/a	n/a
25	YY1	chr22:31090063-31090574	SK-N-SH	brain:	n/a	chr22:31090347-31090356
26	YY1	chr22:31089937-31090697	SK-N-SH	brain:	n/a	chr22:31090347-31090356
27	RAD21	chr22:31090072-31090525	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr22:31089981-31090631	A549	lung:	n/a	n/a
29	SIN3A	chr22:31090055-31090671	H1-hESC	embryonic stem cell:	n/a	chr22:31090559-31090568
30	MAX	chr22:31090073-31090617	A549	lung:	n/a	n/a
31	CEBPB	chr22:31090056-31090384	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr22:31090077-31091209	MCF-7	breast:	n/a	n/a
33	CREB1	chr22:31090058-31090413	A549	lung:	n/a	n/a
34	YY1	chr22:31089959-31090710	H1-hESC	embryonic stem cell:	n/a	chr22:31090347-31090356
35	YY1	chr22:31090056-31090534	H1-hESC	embryonic stem cell:	n/a	chr22:31090347-31090356
36	MAX	chr22:31090042-31090660	MCF-7	breast:	n/a	n/a
37	POLR2A	chr22:31090052-31090616	H1-neurons	neurons:	n/a	n/a
38	TAF1	chr22:31090048-31090607	ECC-1	luminal epithelium:	n/a	n/a
39	NFIC	chr22:31089960-31090541	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr22:31090030-31091435	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:31090071-31090121	AG09319	gingival:	n/a
2	chr22:31090071-31090121	NB4	blood:	n/a
3	chr22:31090071-31090121	PFSK-1	brain:	n/a
4	chr22:31090071-31090121	SAEC	small airway:	n/a
5	chr22:31090071-31090121	HUVEC	blood vessel:	n/a
6	chr22:31090071-31090121	NH-A	brain:	n/a
7	chr22:31090071-31090121	BJ	skin:	n/a
8	chr22:31090071-31090121	HNPCEpiC	eye:	n/a
9	chr22:31090071-31090121	SK-N-MC	brain:	n/a
10	chr22:31090071-31090121	HCT-116	colon:	n/a
11	chr22:31090071-31090121	HCF	heart:	n/a
12	chr22:31090071-31090121	HCM	heart:	n/a
13	chr22:31090071-31090121	ovcar-3	ovarian:	n/a
14	chr22:31090071-31090121	Caco-2	colon:	n/a
15	chr22:31090071-31090121	HRE	kidney:	n/a
16	chr22:31090071-31090121	HAEpiC	amniotic membrane:	n/a
17	chr22:31090071-31090121	NT2-D1	testis:	n/a
18	chr22:31090071-31090121	ProgFib	skin:	n/a
19	chr22:31090071-31090121	HPAEpiC	pulmonary alveolar:	n/a
20	chr22:31090071-31090121	Jurkat	blood:	n/a
21	chr22:31090071-31090121	GM12891	blood:	n/a
22	chr22:31090071-31090121	NHDF-neo	bronchial:	n/a
23	chr22:31090071-31090121	A549	lung:	n/a
24	chr22:31090071-31090121	PANC-1	pancreas:	n/a
25	chr22:31090071-31090121	HEK293	kidney:	embryo
26	chr22:31090071-31090121	MCF10A-Er-Src	breast:	n/a
27	chr22:31090071-31090121	MCF-7	breast:	n/a
28	chr22:31090071-31090121	AG10803	skin:	n/a
29	chr22:31090071-31090121	RPTEC	kidney:	n/a
30	chr22:31090071-31090121	K562	blood:	n/a
31	chr22:31090071-31090121	GM19239	blood:	n/a
32	chr22:31090071-31090121	HRPEpiC	eye:	n/a
33	chr22:31090071-31090121	PrEC	prostate:	n/a
34	chr22:31090071-31090121	LNCaP	prostate:	n/a
35	chr22:31090071-31090121	SK-N-SH	brain:	n/a
36	chr22:31090071-31090121	GM12892	blood:	n/a
37	chr22:31090071-31090121	NHBE	bronchial:	n/a
38	chr22:31090071-31090121	GM12878	blood:	n/a
39	chr22:31090071-31090121	HEEpiC	esophagus:	n/a
40	chr22:31090071-31090121	IMR90	lung:	fetal
41	chr22:31090071-31090121	H1-hESC	embryonic stem cell:	embryo
42	chr22:31090071-31090121	HepG2	liver:	n/a
43	chr22:31090071-31090121	AG04449	skin:	fetal
44	chr22:31090071-31090121	AG04450	lung:	fetal
45	chr22:31090071-31090121	HCPEpiC	choroid plexus:	n/a
46	chr22:31090071-31090121	T-47D	breast:	n/a
47	chr22:31090071-31090121	AoSMC	blood vessel:	n/a
48	chr22:31090071-31090121	Hela-S3	cervix:	n/a
49	chr22:31090071-31090121	Hepatocyte	liver:	n/a
50	chr22:31090071-31090121	GM06990	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31057579..31060597-chr22:31088878..31091753,3	MCF-7	breast:
2	chr22:31062708..31065866-chr22:31088934..31092028,6	MCF-7	breast:
3	chr22:31062803..31066328-chr22:31088733..31092098,4	MCF-7	breast:

No data

Variant related genes	Relation type
OSBP2	TF binding region
OSBP2	CpG island
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3356283	chr22:31089477-31092325	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3428599	chr22:31089827-31092000	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31089400-31091600	Active TSS	Fetal Kidney	kidney
2	chr22:31089800-31090200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr22:31089800-31090200	Enhancers	Stomach Mucosa	stomach
4	chr22:31089800-31090400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:31089800-31090400	Enhancers	Fetal Brain Male	brain
6	chr22:31089800-31090600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:31089800-31090600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:31089800-31091200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr22:31089800-31091200	Active TSS	Fetal Brain Female	brain
10	chr22:31089800-31091400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr22:31089800-31091600	Active TSS	Hela-S3	cervix
12	chr22:31089800-31091800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr22:31089800-31092000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr22:31090000-31090200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:31090000-31090200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:31090000-31090200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr22:31090000-31090200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:31090000-31090200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr22:31090000-31090200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:31090000-31090200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr22:31090000-31090200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:31090000-31090200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr22:31090000-31090200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr22:31090000-31090200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr22:31090000-31090200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31090000-31090200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
27	chr22:31090000-31090200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr22:31090000-31090200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31090000-31090200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:31090000-31090200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:31090000-31090200	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr22:31090000-31090200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr22:31090000-31090200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:31090000-31090200	Flanking Active TSS	Fetal Heart	heart
35	chr22:31090000-31090200	Active TSS	Fetal Intestine Large	intestine
36	chr22:31090000-31090200	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr22:31090000-31090200	Bivalent Enhancer	Fetal Thymus	thymus
38	chr22:31090000-31090200	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr22:31090000-31090200	Active TSS	NH-A	brain
40	chr22:31090000-31090200	Flanking Bivalent TSS/Enh	NHEK	skin
41	chr22:31090000-31090400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:31090000-31090400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:31090000-31090400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:31090000-31090400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
45	chr22:31090000-31090400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
46	chr22:31090000-31090400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr22:31090000-31090400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr22:31090000-31090400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr22:31090000-31090400	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr22:31090000-31090400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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