Variant report

Variant	rs543862575
Chromosome Location	chr22:29278719-29278720
allele	C/G
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	POLR2A	chr22:29278659-29279242	PFSK-1	brain:	n/a	n/a
2	HEY1	chr22:29278402-29279263	HepG2	liver:	n/a	chr22:29278641-29278650
3	MYC	chr22:29278538-29280080	MCF10A-Er-Src	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
4	EGR1	chr22:29278617-29279754	HCT-116	colon:	n/a	chr22:29279213-29279227 chr22:29279194-29279208 chr22:29278952-29278965 chr22:29279232-29279246
5	EP300	chr22:29278698-29279153	K562	blood:	n/a	n/a
6	MAX	chr22:29278365-29279828	A549	lung:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
7	POLR2A	chr22:29278614-29278745	HepG2	liver:	n/a	n/a
8	RCOR1	chr22:29278691-29279598	K562	blood:	n/a	n/a
9	KAP1	chr22:29278677-29279084	U2OS	brain:	n/a	n/a
10	HCFC1	chr22:29278451-29279798	Hela-S3	cervix:	n/a	n/a
11	MAX	chr22:29278475-29279772	H1-hESC	embryonic stem cell:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
12	POLR2A	chr22:29278575-29279287	ECC-1	luminal epithelium:	n/a	n/a
13	TAF1	chr22:29278664-29279773	ECC-1	luminal epithelium:	n/a	n/a
14	MYC	chr22:29278582-29279214	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
15	POLR2A	chr22:29278679-29280142	MCF-7	breast:	n/a	n/a
16	MYBL2	chr22:29278544-29279277	HepG2	liver:	n/a	n/a
17	POLR2A	chr22:29278518-29279297	HepG2	liver:	n/a	n/a
18	WRNIP1	chr22:29278690-29279130	GM12878	blood:	n/a	n/a
19	ZMIZ1	chr22:29278532-29279149	K562	blood:	n/a	n/a
20	MAX	chr22:29278479-29279770	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
21	POLR2A	chr22:29278368-29280058	HepG2	liver:	n/a	n/a
22	HA-E2F1	chr22:29278708-29279222	MCF-7	breast:	n/a	chr22:29279132-29279147
23	POLR2A	chr22:29278465-29281452	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr22:29278680-29278728	HUVEC	blood vessel:	n/a	n/a
25	MYC	chr22:29278714-29278724	MCF-7	breast:	n/a	n/a
26	MYC	chr22:29278448-29279762	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
27	MXI1	chr22:29278516-29279727	GM12878	blood:	n/a	n/a
28	TBL1XR1	chr22:29278372-29278723	K562	blood:	n/a	n/a
29	POLR2A	chr22:29278601-29279225	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr22:29278663-29279372	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr22:29278396-29279824	MCF-7	breast:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
32	MAX	chr22:29278572-29279773	SK-N-SH	brain:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
33	POLR2A	chr22:29278564-29279760	K562	blood:	n/a	n/a
34	YY1	chr22:29278575-29279369	ECC-1	luminal epithelium:	n/a	chr22:29279045-29279064
35	JUND	chr22:29278564-29279253	K562	blood:	n/a	chr22:29278609-29278621
36	MAX	chr22:29278401-29279864	HCT-116	colon:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
37	MAX	chr22:29278558-29279757	HepG2	liver:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
38	MYC	chr22:29278548-29280455	NB4	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29280251-29280258 chr22:29280252-29280261 chr22:29280250-29280259 chr22:29278722-29278729 chr22:29278640-29278651
39	MAX	chr22:29278528-29280092	K562	blood:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
40	MAX	chr22:29278482-29279182	H1-hESC	embryonic stem cell:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651
41	POLR2A	chr22:29278299-29279786	SK-N-MC	brain:	n/a	n/a
42	TBL1XR1	chr22:29278621-29279106	K562	blood:	n/a	n/a
43	MAX	chr22:29278410-29280606	ECC-1	luminal epithelium:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29280251-29280258 chr22:29280252-29280261 chr22:29280250-29280259 chr22:29278722-29278729 chr22:29278640-29278651
44	MXI1	chr22:29278143-29281490	SK-N-SH	brain:	n/a	n/a
45	TCF12	chr22:29278476-29279763	ECC-1	luminal epithelium:	n/a	chr22:29279020-29279030
46	RCOR1	chr22:29278589-29278789	Hela-S3	cervix:	n/a	n/a
47	BHLHE40	chr22:29278447-29279161	K562	blood:	n/a	chr22:29278642-29278651 chr22:29278641-29278650 chr22:29278641-29278650
48	E2F6	chr22:29278352-29279305	A549	lung:	n/a	chr22:29279132-29279147
49	YY1	chr22:29278573-29279412	K562	blood:	n/a	chr22:29279045-29279064
50	MAX	chr22:29278603-29279813	H1-hESC	embryonic stem cell:	n/a	chr22:29278721-29278730 chr22:29278639-29278652 chr22:29278641-29278650 chr22:29278640-29278651 chr22:29278722-29278729 chr22:29278640-29278651

No.	Distal block	Cell Line	Cell type
1	chr22:29274825..29277296-chr22:29277384..29279241,2	K562	blood:
2	chr22:29210544..29212146-chr22:29276530..29279392,2	MCF-7	breast:
3	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:
4	chr22:29137399..29139735-chr22:29278518..29281229,2	MCF-7	breast:
5	chr22:29277854..29280834-chr3:15899899..15902425,2	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000206560	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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
4	nsv3589	chr22:29265164-29288935	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3360361	chr22:29278452-29281300	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3379535	chr22:29278477-29281525	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29278000-29278800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:29278000-29278800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:29278000-29278800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:29278000-29278800	Enhancers	Right Atrium	heart
5	chr22:29278200-29278800	Enhancers	Colon Smooth Muscle	Colon
6	chr22:29278200-29278800	Flanking Active TSS	A549	lung
7	chr22:29278200-29279000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr22:29278400-29278800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr22:29278400-29278800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29278400-29278800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
11	chr22:29278400-29278800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr22:29278400-29278800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:29278400-29278800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:29278400-29278800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr22:29278400-29278800	Bivalent Enhancer	Fetal Thymus	thymus
16	chr22:29278400-29278800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr22:29278400-29278800	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr22:29278400-29278800	Enhancers	Stomach Mucosa	stomach
19	chr22:29278400-29279000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr22:29278400-29279000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr22:29278400-29279000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29278400-29279000	Flanking Active TSS	Fetal Lung	lung
23	chr22:29278400-29279000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr22:29278400-29279000	Flanking Active TSS	HepG2	liver
25	chr22:29278400-29279200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr22:29278400-29279200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:29278400-29279200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr22:29278400-29279200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr22:29278400-29280400	Active TSS	Brain Cingulate Gyrus	brain
30	chr22:29278600-29278800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:29278600-29278800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:29278600-29278800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr22:29278600-29278800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr22:29278600-29278800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr22:29278600-29278800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:29278600-29278800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:29278600-29278800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:29278600-29278800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:29278600-29278800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
40	chr22:29278600-29278800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
41	chr22:29278600-29278800	Enhancers	Primary B cells from cord blood	blood
42	chr22:29278600-29278800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
43	chr22:29278600-29278800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:29278600-29278800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:29278600-29278800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:29278600-29278800	Enhancers	Brain Substantia Nigra	brain
47	chr22:29278600-29278800	Enhancers	Esophagus	oesophagus
48	chr22:29278600-29278800	Flanking Active TSS	Fetal Kidney	kidney
49	chr22:29278600-29278800	Enhancers	Gastric	stomach
50	chr22:29278600-29278800	Enhancers	Placenta Amnion	Placenta Amnion

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