Variant report

Variant	rs550752865
Chromosome Location	chr22:29279021-29279022
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	TAF1	chr22:29278862-29279299	PFSK-1	brain:	n/a	n/a
2	RFX5	chr22:29278988-29279093	K562	blood:	n/a	n/a
3	POLR2A	chr22:29278659-29279242	PFSK-1	brain:	n/a	n/a
4	RAD21	chr22:29278886-29279269	SK-N-SH_RA	brain:	n/a	n/a
5	HEY1	chr22:29278402-29279263	HepG2	liver:	n/a	chr22:29278641-29278650
6	POLR2A	chr22:29278821-29279315	A549	lung:	n/a	n/a
7	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
8	POLR2A	chr22:29278892-29279742	K562	blood:	n/a	n/a
9	EGR1	chr22:29278617-29279754	HCT-116	colon:	n/a	chr22:29279213-29279227 chr22:29279194-29279208 chr22:29278952-29278965 chr22:29279232-29279246
10	EP300	chr22:29278698-29279153	K562	blood:	n/a	n/a
11	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
12	CREB1	chr22:29278932-29279755	A549	lung:	n/a	n/a
13	POLR2A	chr22:29278873-29279235	U87	brain:	n/a	n/a
14	RAD21	chr22:29278753-29279257	IMR90	lung:	n/a	n/a
15	RCOR1	chr22:29278691-29279598	K562	blood:	n/a	n/a
16	CREB1	chr22:29279009-29279748	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr22:29278677-29279084	U2OS	brain:	n/a	n/a
18	HCFC1	chr22:29278451-29279798	Hela-S3	cervix:	n/a	n/a
19	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
20	POLR2A	chr22:29278575-29279287	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr22:29278865-29279313	HCT-116	colon:	n/a	n/a
22	TAF1	chr22:29278664-29279773	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr22:29278764-29279279	U87	brain:	n/a	n/a
24	TCF7L2	chr22:29278992-29280024	Hela-S3	cervix:	n/a	chr22:29279577-29279591 chr22:29279580-29279589
25	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
26	CHD2	chr22:29278931-29279515	GM12878	blood:	n/a	chr22:29279409-29279419
27	POLR2A	chr22:29278679-29280142	MCF-7	breast:	n/a	n/a
28	MYBL2	chr22:29278544-29279277	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:29278518-29279297	HepG2	liver:	n/a	n/a
30	WRNIP1	chr22:29278690-29279130	GM12878	blood:	n/a	n/a
31	ZMIZ1	chr22:29278532-29279149	K562	blood:	n/a	n/a
32	POLR2A	chr22:29278979-29279218	K562	blood:	n/a	n/a
33	TAF1	chr22:29278994-29279271	Hela-S3	cervix:	n/a	n/a
34	MYC	chr22:29278868-29279293	MCF-7	breast:	n/a	n/a
35	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
36	FOXP2	chr22:29278980-29279765	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr22:29278368-29280058	HepG2	liver:	n/a	n/a
38	YY1	chr22:29278919-29279285	H1-hESC	embryonic stem cell:	n/a	chr22:29279045-29279064
39	YY1	chr22:29278950-29279276	GM12892	blood:	n/a	chr22:29279045-29279064
40	HA-E2F1	chr22:29278708-29279222	MCF-7	breast:	n/a	chr22:29279132-29279147
41	POLR2A	chr22:29278465-29281452	H1-hESC	embryonic stem cell:	n/a	n/a
42	PML	chr22:29278848-29279325	K562	blood:	n/a	n/a
43	POLR2A	chr22:29278784-29279252	K562	blood:	n/a	n/a
44	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
45	MXI1	chr22:29278516-29279727	GM12878	blood:	n/a	n/a
46	HA-E2F1	chr22:29278955-29280283	Hela-S3	cervix:	n/a	chr22:29279645-29279655 chr22:29279639-29279649 chr22:29279642-29279652 chr22:29279494-29279504 chr22:29280104-29280114 chr22:29279132-29279147 chr22:29279512-29279524
47	POLR2A	chr22:29278831-29279248	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr22:29278826-29279262	PANC-1	pancreas:	n/a	n/a
49	SP1	chr22:29278947-29279599	H1-hESC	embryonic stem cell:	n/a	chr22:29279471-29279485 chr22:29279302-29279313 chr22:29279418-29279427 chr22:29279511-29279523 chr22:29279552-29279561 chr22:29279235-29279246 chr22:29279260-29279271 chr22:29279409-29279418 chr22:29279279-29279290 chr22:29279408-29279417 chr22:29279552-29279561 chr22:29279517-29279531 chr22:29279414-29279428 chr22:29279409-29279418 chr22:29279550-29279562 chr22:29279384-29279396 chr22:29279014-29279023 chr22:29279413-29279422 chr22:29279386-29279395 chr22:29279383-29279390 chr22:29279417-29279429 chr22:29279407-29279419 chr22:29279419-29279428 chr22:29279013-29279022 chr22:29279216-29279227 chr22:29279512-29279521 chr22:29279551-29279560 chr22:29279417-29279429
50	MYBL2	chr22:29278822-29279330	HepG2	liver:	n/a	n/a

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:
6	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:

Variant related genes	Relation type
ZNRF3	TF binding region
ENSG00000206560	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000183765	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3397718	chr22:29278952-29280850	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer 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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29278400-29279200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr22:29278400-29279200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:29278400-29279200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr22:29278400-29279200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr22:29278400-29280400	Active TSS	Brain Cingulate Gyrus	brain
6	chr22:29278600-29279200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr22:29278600-29279200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:29278600-29279200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:29278600-29279200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:29278600-29279200	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr22:29278600-29279200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
12	chr22:29278600-29279200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr22:29278600-29279200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr22:29278600-29279200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr22:29278600-29279200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:29278600-29279200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr22:29278600-29279200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:29278600-29279200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr22:29278600-29279200	Active TSS	Fetal Brain Male	brain
20	chr22:29278600-29279200	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr22:29278600-29279200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr22:29278600-29279200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr22:29278600-29279200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr22:29278600-29279200	Flanking Bivalent TSS/Enh	Thymus	Thymus
25	chr22:29278600-29279200	Flanking Active TSS	Dnd41	blood
26	chr22:29278600-29279200	Flanking Active TSS	HMEC	breast
27	chr22:29278600-29280000	Active TSS	Colonic Mucosa	Colon
28	chr22:29278600-29280400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:29278600-29280400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29278600-29280400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:29278600-29280400	Active TSS	Fetal Brain Female	brain
32	chr22:29278600-29280400	Active TSS	Psoas Muscle	Psoas
33	chr22:29278600-29280400	Active TSS	HSMMtube	muscle
34	chr22:29278600-29280400	Active TSS	NH-A	brain
35	chr22:29278600-29280600	Active TSS	Ovary	ovary
36	chr22:29278600-29281200	Active TSS	Aorta	Aorta
37	chr22:29278600-29281200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr22:29278600-29281600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:29278600-29282600	Active TSS	Brain Anterior Caudate	brain
40	chr22:29278800-29279200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:29278800-29279200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:29278800-29279200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr22:29278800-29279200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr22:29278800-29279200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr22:29278800-29279200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:29278800-29279200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:29278800-29279200	Active TSS	Colon Smooth Muscle	Colon
48	chr22:29278800-29279200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
49	chr22:29278800-29279200	Flanking Active TSS	Stomach Mucosa	stomach
50	chr22:29278800-29279200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood

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