Variant report

Variant	rs572262889
Chromosome Location	chr22:30116968-30116969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr22:30116621-30117362	ECC-1	luminal epithelium:	n/a	chr22:30116638-30116649
2	SIN3A	chr22:30116865-30116995	H1-hESC	embryonic stem cell:	n/a	chr22:30116972-30116985
3	ZBTB7A	chr22:30116593-30117503	ECC-1	luminal epithelium:	n/a	chr22:30116638-30116649
4	SUZ12	chr22:30115076-30117639	NT2-D1	testis:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30116953-30117003	HRE	kidney:	n/a
2	chr22:30116919-30116969	SK-N-MC	brain:	n/a
3	chr22:30116953-30117003	AG04450	lung:	fetal
4	chr22:30116953-30117003	GM12878	blood:	n/a
5	chr22:30116953-30117003	T-47D	breast:	n/a
6	chr22:30116953-30117003	IMR90	lung:	fetal
7	chr22:30116953-30117003	HNPCEpiC	eye:	n/a
8	chr22:30116953-30117003	MCF10A-Er-Src	breast:	n/a
9	chr22:30116953-30117003	NH-A	brain:	n/a
10	chr22:30116919-30116969	AG04450	lung:	fetal
11	chr22:30116953-30117003	Jurkat	blood:	n/a
12	chr22:30116919-30116969	AG04449	skin:	fetal
13	chr22:30116953-30117003	GM19239	blood:	n/a
14	chr22:30116919-30116969	IMR90	lung:	fetal
15	chr22:30116953-30117003	PrEC	prostate:	n/a
16	chr22:30116919-30116969	AoSMC	blood vessel:	n/a
17	chr22:30116919-30116969	GM12891	blood:	n/a
18	chr22:30116919-30116969	HRCEpiC	kidney:	n/a
19	chr22:30116953-30117003	NT2-D1	testis:	n/a
20	chr22:30116953-30117003	HIPEpiC	eye:	n/a
21	chr22:30116919-30116969	HepG2	liver:	n/a
22	chr22:30116919-30116969	NHBE	bronchial:	n/a
23	chr22:30116919-30116969	HAEpiC	amniotic membrane:	n/a
24	chr22:30116953-30117003	ProgFib	skin:	n/a
25	chr22:30116953-30117003	AG09309	skin:	n/a
26	chr22:30116919-30116969	Hepatocyte	liver:	n/a
27	chr22:30116919-30116969	LNCaP	prostate:	n/a
28	chr22:30116953-30117003	HCPEpiC	choroid plexus:	n/a
29	chr22:30116919-30116969	MCF-7	breast:	n/a
30	chr22:30116953-30117003	HEK293	kidney:	embryo
31	chr22:30116953-30117003	Hela-S3	cervix:	n/a
32	chr22:30116953-30117003	HPAEpiC	pulmonary alveolar:	n/a
33	chr22:30116919-30116969	HNPCEpiC	eye:	n/a
34	chr22:30116919-30116969	U87	brain:	n/a
35	chr22:30116919-30116969	HPAEpiC	pulmonary alveolar:	n/a
36	chr22:30116953-30117003	CMK	blood:	n/a
37	chr22:30116953-30117003	LNCaP	prostate:	n/a
38	chr22:30116953-30117003	K562	blood:	n/a
39	chr22:30116953-30117003	HCM	heart:	n/a
40	chr22:30116919-30116969	A549	lung:	n/a
41	chr22:30116919-30116969	MCF10A-Er-Src	breast:	n/a
42	chr22:30116953-30117003	HRCEpiC	kidney:	n/a
43	chr22:30116919-30116969	Caco-2	colon:	n/a
44	chr22:30116919-30116969	H1-hESC	embryonic stem cell:	embryo
45	chr22:30116953-30117003	AG10803	skin:	n/a
46	chr22:30116919-30116969	HIPEpiC	eye:	n/a
47	chr22:30116919-30116969	AG09319	gingival:	n/a
48	chr22:30116919-30116969	HMEC	breast:	n/a
49	chr22:30116953-30117003	NB4	blood:	n/a
50	chr22:30116953-30117003	A549	lung:	n/a

No data

Variant related genes	Relation type
ENSG00000232396	TF binding region
ENSG00000239446	TF binding region
ENSG00000232396	CpG island
ENSG00000239446	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv471194	chr22:30103476-30128380	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv471195	chr22:30103476-30128380	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv914967	chr22:30103476-30133579	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3526937	chr22:30114552-30117950	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3526938	chr22:30114552-30117950	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv3398420	chr22:30115152-30117775	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv3400132	chr22:30115377-30118325	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30115400-30117200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:30115400-30118600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr22:30115600-30117000	Active TSS	Fetal Brain Female	brain
4	chr22:30115600-30117200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr22:30115600-30117200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr22:30115600-30117200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:30115600-30117200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:30115600-30117200	Active TSS	Right Atrium	heart
9	chr22:30115600-30117200	Bivalent/Poised TSS	HepG2	liver
10	chr22:30115800-30117000	Bivalent/Poised TSS	Thymus	Thymus
11	chr22:30115800-30117200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr22:30115800-30117200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr22:30115800-30117200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr22:30115800-30126200	Weak transcription	Gastric	stomach
15	chr22:30116000-30117000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:30116000-30117000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:30116000-30117000	Active TSS	HSMM	muscle
18	chr22:30116000-30117200	Enhancers	Lung	lung
19	chr22:30116200-30117000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
20	chr22:30116400-30117000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr22:30116400-30117000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr22:30116400-30117000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:30116400-30117000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
24	chr22:30116400-30117000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr22:30116400-30117000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
26	chr22:30116400-30117200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr22:30116400-30117200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:30116400-30117200	Bivalent Enhancer	Esophagus	oesophagus
29	chr22:30116400-30117200	Active TSS	A549	lung
30	chr22:30116600-30117000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
31	chr22:30116600-30117000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr22:30116600-30117000	Bivalent/Poised TSS	Ovary	ovary
33	chr22:30116600-30117000	Bivalent Enhancer	HMEC	breast
34	chr22:30116600-30117200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:30116600-30117200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:30116600-30117200	Enhancers	Primary B cells from cord blood	blood
37	chr22:30116600-30117200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr22:30116600-30117200	Bivalent Enhancer	Liver	Liver
39	chr22:30116600-30117200	Enhancers	Pancreas	Pancrea
40	chr22:30116600-30117200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
41	chr22:30116600-30117600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr22:30116600-30117600	Bivalent Enhancer	Fetal Stomach	stomach
43	chr22:30116600-30126400	Weak transcription	Aorta	Aorta
44	chr22:30116800-30117000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:30116800-30117000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr22:30116800-30117000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr22:30116800-30117000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:30116800-30117000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:30116800-30117000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr22:30116800-30117000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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