Variant report

Variant	rs572476888
Chromosome Location	chr22:31364187-31364188
allele	A/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	chr22:31364105-31364813	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr22:31364171-31365949	ECC-1	luminal epithelium:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
3	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
4	KAP1	chr22:31364140-31365406	HEK293	kidney:	n/a	n/a
5	MAX	chr22:31364068-31366020	HepG2	liver:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
6	REST	chr22:31364096-31366575	H1-neurons	neurons:	n/a	chr22:31364573-31364586 chr22:31364189-31364203 chr22:31364571-31364581
7	POLR2A	chr22:31364038-31366208	HUVEC	blood vessel:	n/a	n/a
8	CHD1	chr22:31364123-31364743	H1-hESC	embryonic stem cell:	n/a	chr22:31364590-31364600
9	POLR2A	chr22:31364160-31366004	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr22:31362793-31365454	K562	blood:	n/a	n/a
11	ATF2	chr22:31364165-31364719	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr22:31363919-31365484	H1-hESC	embryonic stem cell:	n/a	chr22:31365081-31365091 chr22:31364590-31364600 chr22:31365241-31365251
13	MAX	chr22:31364177-31365521	H1-hESC	embryonic stem cell:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
14	POLR2A	chr22:31364183-31365807	HUVEC	blood vessel:	n/a	n/a
15	CEBPB	chr22:31364043-31364708	A549	lung:	n/a	n/a
16	HEY1	chr22:31364143-31365709	K562	blood:	n/a	chr22:31364586-31364601 chr22:31365041-31365056
17	MXI1	chr22:31364141-31366765	IMR90	lung:	n/a	chr22:31364727-31364736
18	MAX	chr22:31364121-31366101	A549	lung:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
19	USF1	chr22:31364162-31364830	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr22:31364135-31365600	A549	lung:	n/a	chr22:31365060-31365069 chr22:31365082-31365094 chr22:31364771-31364786 chr22:31365240-31365249 chr22:31365114-31365123 chr22:31364592-31364601
21	BHLHE40	chr22:31364001-31365556	K562	blood:	n/a	chr22:31365171-31365180 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
22	POLR2A	chr22:31364186-31366075	MCF-7	breast:	n/a	n/a
23	E2F6	chr22:31364170-31365623	H1-hESC	embryonic stem cell:	n/a	chr22:31365060-31365069 chr22:31365082-31365094 chr22:31364771-31364786 chr22:31365240-31365249 chr22:31365114-31365123 chr22:31364592-31364601
24	CEBPB	chr22:31364024-31364652	K562	blood:	n/a	n/a
25	E2F6	chr22:31364181-31365928	K562	blood:	n/a	chr22:31365060-31365069 chr22:31365082-31365094 chr22:31364771-31364786 chr22:31365240-31365249 chr22:31365114-31365123 chr22:31364592-31364601
26	MYC	chr22:31364159-31365887	K562	blood:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
27	MAX	chr22:31364155-31366046	HepG2	liver:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
28	EGR1	chr22:31364138-31365551	HCT-116	colon:	n/a	chr22:31364593-31364606 chr22:31365086-31365099 chr22:31365086-31365099 chr22:31364215-31364226 chr22:31365235-31365248 chr22:31364591-31364601 chr22:31365086-31365099 chr22:31365085-31365099 chr22:31365081-31365103 chr22:31365086-31365099 chr22:31365085-31365100 chr22:31365087-31365096 chr22:31365346-31365356 chr22:31364593-31364603 chr22:31365086-31365096 chr22:31364213-31364228 chr22:31365001-31365011
29	MAX	chr22:31364068-31365894	K562	blood:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
30	POLR2A	chr22:31364150-31365962	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr22:31364181-31364794	K562	blood:	n/a	n/a
32	POLR2A	chr22:31362869-31366919	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr22:31363622-31366631	IMR90	lung:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
34	YY1	chr22:31364182-31364555	H1-hESC	embryonic stem cell:	n/a	n/a
35	JUN	chr22:31363394-31366133	K562	blood:	n/a	chr22:31365112-31365121 chr22:31365062-31365071
36	MAX	chr22:31364129-31365595	ECC-1	luminal epithelium:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
37	USF1	chr22:31364141-31365643	ECC-1	luminal epithelium:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
38	CEBPB	chr22:31364162-31364653	H1-hESC	embryonic stem cell:	n/a	n/a
39	USF1	chr22:31364085-31365565	H1-hESC	embryonic stem cell:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
40	POLR2A	chr22:31364052-31366185	K562	blood:	n/a	n/a
41	SIN3AK20	chr22:31364133-31365633	MCF-7	breast:	n/a	n/a
42	POLR2A	chr22:31364056-31364825	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr22:31364168-31364192	GM12878	blood:	n/a	n/a
44	MAX	chr22:31364120-31365637	H1-hESC	embryonic stem cell:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
45	POLR2A	chr22:31363643-31367487	HepG2	liver:	n/a	n/a
46	STAT3	chr22:31364013-31364403	MCF10A-Er-Src	breast:	n/a	chr22:31364269-31364292 chr22:31364266-31364280
47	SIN3A	chr22:31364084-31366053	H1-hESC	embryonic stem cell:	n/a	chr22:31364796-31364807 chr22:31364570-31364584 chr22:31364564-31364577 chr22:31364570-31364578
48	MAX	chr22:31364140-31365677	H1-hESC	embryonic stem cell:	n/a	chr22:31365170-31365183 chr22:31364597-31364606 chr22:31365000-31365010 chr22:31365172-31365181 chr22:31365134-31365144 chr22:31365172-31365181 chr22:31364593-31364603 chr22:31365090-31365100 chr22:31365172-31365181
49	TCF12	chr22:31364126-31365540	A549	lung:	n/a	n/a
50	CEBPB	chr22:31363983-31364671	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
2	chr22:31363776..31366652-chr22:31458331..31460655,2	K562	blood:
3	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
4	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
5	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
6	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
7	chr22:31363553..31366522-chr22:32148342..32151239,2	K562	blood:
8	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
9	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

Variant related genes	Relation type
MORC2	TF binding region
TUG1	TF binding region
ENSG00000240186	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394890	chr22:31363902-31366800	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:31346200-31364200	Weak transcription	Brain Substantia Nigra	brain
4	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
5	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
6	chr22:31349200-31364200	Weak transcription	Thymus	Thymus
7	chr22:31349400-31364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:31349800-31364200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr22:31350400-31364200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:31351000-31364400	Weak transcription	Ovary	ovary
11	chr22:31352600-31364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:31353400-31364200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:31355400-31364200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr22:31355400-31364200	Weak transcription	Placenta	Placenta
15	chr22:31355600-31364200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr22:31357600-31364600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:31357800-31364200	ZNF genes & repeats	Fetal Brain Female	brain
18	chr22:31358800-31364200	Weak transcription	Fetal Thymus	thymus
19	chr22:31360200-31364200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:31360600-31364400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
21	chr22:31362400-31365200	Flanking Active TSS	Dnd41	blood
22	chr22:31362600-31364200	Enhancers	Small Intestine	intestine
23	chr22:31362600-31364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr22:31362800-31364200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr22:31362800-31364200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:31362800-31364200	Weak transcription	Left Ventricle	heart
27	chr22:31362800-31364200	ZNF genes & repeats	GM12878-XiMat	blood
28	chr22:31362800-31364400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr22:31362800-31364400	Weak transcription	Lung	lung
30	chr22:31363000-31364200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
31	chr22:31363000-31364200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:31363000-31364200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:31363000-31364400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:31363000-31364400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr22:31363000-31364400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr22:31363000-31364400	ZNF genes & repeats	A549	lung
37	chr22:31363000-31364600	ZNF genes & repeats	Fetal Lung	lung
38	chr22:31363000-31366200	Active TSS	K562	blood
39	chr22:31363000-31366600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr22:31363000-31367200	Active TSS	Psoas Muscle	Psoas
41	chr22:31363200-31364200	Weak transcription	Gastric	stomach
42	chr22:31363200-31364200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr22:31363200-31364400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr22:31363200-31364600	Flanking Active TSS	HepG2	liver
45	chr22:31363200-31366200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:31363200-31366600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr22:31363400-31364200	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr22:31363400-31364200	ZNF genes & repeats	HMEC	breast
49	chr22:31363400-31364400	ZNF genes & repeats	NHEK	skin
50	chr22:31363600-31364200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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