Variant report

Variant	rs548113783
Chromosome Location	chr22:29468838-29468839
allele	G/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	NRF1	chr22:29468669-29469033	GM12878	blood:	n/a	n/a
2	PBX3	chr22:29468641-29468953	A549	lung:	n/a	chr22:29468858-29468867
3	CTCF	chr22:29468795-29468910	Spleen_OC	spleen:	n/a	n/a
4	MAX	chr22:29468637-29468883	HepG2	liver:	n/a	n/a
5	NR2F2	chr22:29468388-29468913	MCF-7	breast:	n/a	n/a
6	E2F4	chr22:29468585-29468958	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr22:29468659-29468851	H1-hESC	embryonic stem cell:	n/a	n/a
8	PBX3	chr22:29468770-29468956	GM12878	blood:	n/a	chr22:29468858-29468867
9	CREB1	chr22:29468433-29469126	HepG2	liver:	n/a	n/a
10	PAX5	chr22:29468629-29469060	GM12892	blood:	n/a	n/a
11	MAZ	chr22:29468509-29469091	K562	blood:	n/a	n/a
12	HDAC2	chr22:29468510-29468933	HepG2	liver:	n/a	n/a
13	PBX3	chr22:29468569-29469040	SK-N-SH	brain:	n/a	chr22:29468858-29468867
14	STAT1	chr22:29468778-29468973	GM12878	blood:	n/a	n/a
15	FOXP2	chr22:29468790-29469004	PFSK-1	brain:	n/a	n/a
16	EGR1	chr22:29468809-29469184	K562	blood:	n/a	chr22:29468894-29468903 chr22:29469054-29469064 chr22:29469050-29469063
17	MAZ	chr22:29468731-29468997	HepG2	liver:	n/a	n/a
18	SMC3	chr22:29468696-29468869	Hela-S3	cervix:	n/a	n/a
19	RFX5	chr22:29468704-29468914	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr22:29468743-29469016	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr22:29468622-29469228	K562	blood:	n/a	n/a
22	MYC	chr22:29468580-29468953	K562	blood:	n/a	n/a
23	MYC	chr22:29468653-29468950	K562	blood:	n/a	n/a
24	ZEB1	chr22:29468264-29469115	HepG2	liver:	n/a	chr22:29468767-29468774 chr22:29468824-29468831 chr22:29468765-29468774
25	NRF1	chr22:29468703-29468997	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr22:29468552-29468958	K562	blood:	n/a	n/a
27	HMGN3	chr22:29468706-29469323	K562	blood:	n/a	n/a
28	MAX	chr22:29468594-29468896	Hela-S3	cervix:	n/a	n/a
29	MAZ	chr22:29468573-29469071	GM12878	blood:	n/a	n/a
30	POLR2A	chr22:29468700-29468874	HepG2	liver:	n/a	n/a
31	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
32	YY1	chr22:29468819-29469228	K562	blood:	n/a	chr22:29469059-29469073 chr22:29469065-29469076 chr22:29469028-29469042 chr22:29468907-29468921
33	MYC	chr22:29468794-29468921	MCF-7	breast:	n/a	n/a
34	NRF1	chr22:29468267-29469153	SK-N-SH	brain:	n/a	n/a
35	JUN	chr22:29468457-29468913	K562	blood:	n/a	n/a
36	TCF12	chr22:29468659-29468897	H1-hESC	embryonic stem cell:	n/a	n/a
37	MYC	chr22:29468783-29468969	MCF10A-Er-Src	breast:	n/a	n/a
38	CEBPD	chr22:29468766-29469244	HepG2	liver:	n/a	n/a
39	YY1	chr22:29468735-29469249	GM12878	blood:	n/a	chr22:29469232-29469241 chr22:29469059-29469073 chr22:29469065-29469076 chr22:29469028-29469042 chr22:29468907-29468921
40	MXI1	chr22:29468751-29468898	GM12878	blood:	n/a	n/a
41	MYC	chr22:29468816-29468919	MCF-7	breast:	n/a	n/a
42	MAZ	chr22:29468246-29469517	IMR90	lung:	n/a	chr22:29469230-29469240 chr22:29469294-29469304
43	MAX	chr22:29468473-29469032	K562	blood:	n/a	n/a
44	NANOG	chr22:29468557-29468943	H1-hESC	embryonic stem cell:	n/a	chr22:29468809-29468818
45	IRF1	chr22:29468496-29469014	K562	blood:	n/a	chr22:29468838-29468852 chr22:29468755-29468769 chr22:29468905-29468919
46	CHD2	chr22:29468784-29469016	Hela-S3	cervix:	n/a	n/a
47	SP4	chr22:29468581-29469039	H1-hESC	embryonic stem cell:	n/a	chr22:29468755-29468771 chr22:29468836-29468852 chr22:29468907-29468923
48	PBX3	chr22:29468589-29468974	SK-N-SH	brain:	n/a	chr22:29468858-29468867
49	NR2F2	chr22:29468413-29469054	MCF-7	breast:	n/a	n/a
50	TBP	chr22:29468605-29468880	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
KREMEN1	TF binding region
ENSG00000183579	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	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	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv3350194	chr22:29468252-29470350	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
2	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
3	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr22:29467200-29471200	Active TSS	Ovary	ovary
8	chr22:29467400-29469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:29467400-29469600	Active TSS	Right Ventricle	heart
10	chr22:29467400-29470000	Active TSS	Aorta	Aorta
11	chr22:29467400-29470200	Active TSS	Psoas Muscle	Psoas
12	chr22:29467400-29470200	Active TSS	Right Atrium	heart
13	chr22:29467600-29470400	Active TSS	HSMM	muscle
14	chr22:29467800-29470200	Active TSS	Brain Substantia Nigra	brain
15	chr22:29467800-29470400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:29468000-29470600	Flanking Active TSS	Colonic Mucosa	Colon
17	chr22:29468200-29469000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr22:29468200-29469400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:29468400-29469200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:29468400-29469400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:29468400-29469800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29468400-29469800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:29468400-29470000	Active TSS	HSMMtube	muscle
24	chr22:29468600-29469000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:29468600-29469000	Enhancers	Gastric	stomach
26	chr22:29468600-29469200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:29468600-29469200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:29468600-29469800	Active TSS	A549	lung
29	chr22:29468600-29470200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr22:29468600-29470200	Active TSS	Brain Angular Gyrus	brain
31	chr22:29468600-29470200	Active TSS	Brain Anterior Caudate	brain
32	chr22:29468600-29470200	Active TSS	Left Ventricle	heart
33	chr22:29468600-29470600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:29468600-29470600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr22:29468600-29471400	Active TSS	Fetal Kidney	kidney
36	chr22:29468800-29469000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:29468800-29469000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:29468800-29469000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:29468800-29469200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr22:29468800-29469200	Active TSS	Primary B cells from cord blood	blood
41	chr22:29468800-29469200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr22:29468800-29469200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr22:29468800-29469200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
44	chr22:29468800-29469200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
45	chr22:29468800-29469200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr22:29468800-29469200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:29468800-29469200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
48	chr22:29468800-29469200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr22:29468800-29469200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:29468800-29469200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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