Variant report

Variant	rs4820920
Chromosome Location	chr22:31364580-31364581
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	MYC	chr22:31364307-31365977	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
2	POLR2A	chr22:31364105-31364813	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31364437-31365665	PANC-1	pancreas:	n/a	n/a
4	MYBL2	chr22:31364453-31365442	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:31364427-31364609	HepG2	liver:	n/a	n/a
6	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
7	POLR2A	chr22:31364566-31366024	Raji	blood:	n/a	n/a
8	POLR2A	chr22:31364340-31366576	MCF10A-Er-Src	breast:	n/a	n/a
9	TBP	chr22:31364467-31365598	HepG2	liver:	n/a	n/a
10	RUNX3	chr22:31364354-31365910	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
12	HEY1	chr22:31364332-31365119	K562	blood:	n/a	chr22:31364586-31364601 chr22:31365041-31365056
13	MAX	chr22:31364481-31365652	HUVEC	blood vessel:	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	chr22:31364531-31365840	HEK293	kidney:	n/a	n/a
15	SIN3AK20	chr22:31364324-31365082	K562	blood:	n/a	n/a
16	MYC	chr22:31364236-31365640	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
17	POLR2A	chr22:31364506-31365587	A549	lung:	n/a	n/a
18	POLR2A	chr22:31364379-31366852	GM12892	blood:	n/a	n/a
19	SIN3AK20	chr22:31364354-31364642	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF7	chr22:31364206-31365708	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:31364558-31365548	HepG2	liver:	n/a	n/a
22	TCF12	chr22:31364309-31365651	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr22:31364353-31365787	Hela-S3	cervix:	n/a	chr22:31364727-31364736
24	MAX	chr22:31364436-31365669	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
25	MYC	chr22:31364509-31365328	MCF-7	breast:	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
26	KAP1	chr22:31364140-31365406	HEK293	kidney:	n/a	n/a
27	CREB1	chr22:31364335-31365592	HepG2	liver:	n/a	n/a
28	POLR2A	chr22:31364497-31365885	HepG2	liver:	n/a	n/a
29	MYC	chr22:31364384-31365586	MCF10A-Er-Src	breast:	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	TAF1	chr22:31364464-31365422	HepG2	liver:	n/a	n/a
31	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
32	SIN3AK20	chr22:31364430-31364754	HepG2	liver:	n/a	n/a
33	JUND	chr22:31364316-31365599	H1-hESC	embryonic stem cell:	n/a	chr22:31365112-31365121 chr22:31365062-31365071
34	USF2	chr22:31364215-31365389	H1-hESC	embryonic stem cell:	n/a	chr22:31365171-31365180 chr22:31365133-31365144 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365170-31365181 chr22:31365172-31365181
35	ZNF143	chr22:31364449-31365597	GM12878	blood:	n/a	chr22:31365028-31365046
36	HEY1	chr22:31364342-31364833	HepG2	liver:	n/a	chr22:31364586-31364601
37	ZMIZ1	chr22:31364285-31364812	K562	blood:	n/a	n/a
38	FOXP2	chr22:31364462-31364859	PFSK-1	brain:	n/a	n/a
39	USF1	chr22:31364554-31365650	HCT-116	colon:	n/a	chr22:31365171-31365180 chr22:31365170-31365181 chr22:31365170-31365183 chr22:31365173-31365182 chr22:31365172-31365181 chr22:31365172-31365181
40	MAX	chr22:31364429-31365564	Hela-S3	cervix:	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
41	USF1	chr22:31364496-31364880	SK-N-SH_RA	brain:	n/a	n/a
42	POLR2A	chr22:31364363-31366848	IMR90	lung:	n/a	n/a
43	POLR2A	chr22:31364511-31365614	Gliobla	brain:	n/a	n/a
44	E2F4	chr22:31364550-31365645	K562	blood:	n/a	chr22:31365060-31365069 chr22:31365082-31365094 chr22:31364771-31364786 chr22:31365240-31365249 chr22:31365114-31365123 chr22:31364592-31364601
45	JUND	chr22:31364322-31365994	K562	blood:	n/a	chr22:31365112-31365121 chr22:31365062-31365071
46	POLR2A	chr22:31364380-31365911	MCF-7	breast:	n/a	n/a
47	MYC	chr22:31364242-31365606	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
48	NFIC	chr22:31364293-31365670	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr22:31364267-31365401	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAX	chr22:31364343-31365581	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

No.	Distal block	Cell Line	Cell type
1	chr22:31363691..31369255-chr22:31456002..31460514,7	MCF-7	breast:
2	chr22:31364295..31366215-chr22:31500800..31503274,2	K562	blood:
3	chr22:31363776..31366652-chr22:31458331..31460655,2	K562	blood:
4	chr22:31364563..31366605-chr22:31487130..31490590,3	MCF-7	breast:
5	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
6	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
7	chr22:31363469..31366268-chr22:31450278..31456884,6	MCF-7	breast:
8	chr22:31364265..31366657-chr3:63848755..63850667,2	MCF-7	breast:
9	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
10	chr22:31363553..31366522-chr22:32148342..32151239,2	K562	blood:
11	chr22:31364481..31367281-chr22:31457492..31460562,3	MCF-7	breast:
12	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
13	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

Variant related genes	Relation type
MORC2	TF binding region
TUG1	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000240186	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000163634	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12160486	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34240867	1.00[ASN][1000 genomes]
rs34369042	1.00[ASN][1000 genomes]
rs35988107	1.00[ASN][1000 genomes]
rs41279971	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820031	1.00[ASN][1000 genomes]
rs4820034	0.87[EUR][1000 genomes]
rs4820912	1.00[ASN][1000 genomes]
rs4820913	1.00[ASN][1000 genomes]
rs4820914	1.00[ASN][1000 genomes]
rs4820917	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820929	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820930	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820931	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5994357	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994363	1.00[ASN][1000 genomes]
rs5997799	1.00[ASN][1000 genomes]
rs5997818	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997850	1.00[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31357600-31364600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31362400-31365200	Flanking Active TSS	Dnd41	blood
3	chr22:31363000-31364600	ZNF genes & repeats	Fetal Lung	lung
4	chr22:31363000-31366200	Active TSS	K562	blood
5	chr22:31363000-31366600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr22:31363000-31367200	Active TSS	Psoas Muscle	Psoas
7	chr22:31363200-31364600	Flanking Active TSS	HepG2	liver
8	chr22:31363200-31366200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:31363200-31366600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:31363600-31364600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr22:31363600-31364600	Flanking Active TSS	Fetal Heart	heart
12	chr22:31363600-31364800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:31363600-31364800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:31363600-31366000	Active TSS	Brain Hippocampus Middle	brain
15	chr22:31363600-31366200	Active TSS	Right Atrium	heart
16	chr22:31363600-31366400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr22:31363800-31364600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:31363800-31364600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr22:31363800-31364600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
20	chr22:31363800-31364600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr22:31363800-31364600	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr22:31363800-31364600	Flanking Active TSS	HUVEC	blood vessel
23	chr22:31363800-31364800	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr22:31363800-31365200	Active TSS	Brain Germinal Matrix	brain
25	chr22:31363800-31366000	Active TSS	NH-A	brain
26	chr22:31363800-31366000	Active TSS	Osteobl	bone
27	chr22:31363800-31366200	Active TSS	Right Ventricle	heart
28	chr22:31363800-31366600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:31363800-31366800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr22:31364000-31364600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31364000-31364600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr22:31364000-31364600	Flanking Active TSS	Liver	Liver
33	chr22:31364000-31364600	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr22:31364000-31364600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr22:31364000-31364800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr22:31364000-31366000	Active TSS	HSMMtube	muscle
37	chr22:31364000-31366200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr22:31364000-31366400	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr22:31364000-31366400	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr22:31364000-31366400	Active TSS	Fetal Kidney	kidney
41	chr22:31364000-31366400	Active TSS	NHLF	lung
42	chr22:31364000-31366600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr22:31364000-31366600	Active TSS	H1 Cell Line	embryonic stem cell
44	chr22:31364000-31366600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:31364200-31364600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr22:31364200-31364600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr22:31364200-31364600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:31364200-31364600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:31364200-31364600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:31364200-31364600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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