Variant report

Variant	rs564721310
Chromosome Location	chr22:31741999-31742000
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	JUND	chr22:31741812-31742059	HepG2	liver:	n/a	chr22:31741933-31741942 chr22:31741846-31741855 chr22:31741842-31741851
2	MAX	chr22:31741294-31742187	ECC-1	luminal epithelium:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
3	CTCF	chr22:31741741-31742146	T-47D	breast:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
4	CTCF	chr22:31741880-31742030	HMEC	breast:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
5	RCOR1	chr22:31741820-31742108	K562	blood:	n/a	n/a
6	CTCF	chr22:31741880-31742030	MCF-7	breast:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
7	CTCF	chr22:31741427-31742121	GM19238	blood:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
8	POLR2A	chr22:31738526-31742192	GM12892	blood:	n/a	n/a
9	SIN3A	chr22:31741641-31742487	GM12878	blood:	n/a	chr22:31741643-31741654 chr22:31742283-31742294 chr22:31742272-31742283
10	ATF2	chr22:31741717-31742056	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr22:31741499-31742586	ECC-1	luminal epithelium:	n/a	chr22:31741592-31741601 chr22:31741945-31741961 chr22:31741944-31741953 chr22:31742342-31742351 chr22:31742269-31742285 chr22:31741946-31741955
12	RCOR1	chr22:31741924-31742070	K562	blood:	n/a	n/a
13	ETS1	chr22:31741823-31742076	K562	blood:	n/a	chr22:31741837-31741848
14	MYC	chr22:31741876-31742014	MCF-7	breast:	n/a	n/a
15	CHD2	chr22:31741453-31742067	H1-hESC	embryonic stem cell:	n/a	chr22:31741625-31741635
16	CTCF	chr22:31741723-31742180	K562	blood:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
17	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
18	CTCF	chr22:31741860-31742010	AG04450	lung:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
19	SMC3	chr22:31741790-31742009	HepG2	liver:	n/a	chr22:31741900-31741910 chr22:31741941-31741951
20	POLR2A	chr22:31741618-31742165	HepG2	liver:	n/a	n/a
21	TCF12	chr22:31741374-31742605	ECC-1	luminal epithelium:	n/a	n/a
22	USF1	chr22:31741842-31742087	SK-N-SH_RA	brain:	n/a	n/a
23	EBF1	chr22:31741882-31742098	GM12878	blood:	n/a	n/a
24	TAF1	chr22:31741865-31742160	K562	blood:	n/a	n/a
25	CTCF	chr22:31741860-31742010	NHDF-neo	bronchial:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
26	PAX5	chr22:31741701-31742550	GM12892	blood:	n/a	chr22:31742341-31742350 chr22:31741948-31741957
27	JUND	chr22:31741816-31742163	H1-hESC	embryonic stem cell:	n/a	chr22:31741933-31741942 chr22:31741846-31741855 chr22:31741842-31741851
28	ZEB1	chr22:31741758-31742111	GM12878	blood:	n/a	n/a
29	CEBPB	chr22:31741901-31742062	HepG2	liver:	n/a	n/a
30	POLR2A	chr22:31741313-31742050	GM12891	blood:	n/a	n/a
31	RAD21	chr22:31741793-31742175	K562	blood:	n/a	n/a
32	SP1	chr22:31741737-31742142	GM12878	blood:	n/a	chr22:31741800-31741812 chr22:31741800-31741811 chr22:31741843-31741854 chr22:31741800-31741812 chr22:31741802-31741811
33	CTCF	chr22:31741900-31742050	RPTEC	kidney:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
34	TBL1XR1	chr22:31741851-31742051	K562	blood:	n/a	n/a
35	POLR2A	chr22:31738630-31742577	GM12892	blood:	n/a	n/a
36	CTCF	chr22:31741860-31742010	SK-N-SH_RA	brain:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
37	CTCF	chr22:31741880-31742030	HCM	heart:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
38	MYC	chr22:31741645-31742586	K562	blood:	n/a	chr22:31742542-31742552 chr22:31741801-31741811 chr22:31741681-31741697
39	JUND	chr22:31741808-31742428	A549	lung:	n/a	chr22:31741933-31741942 chr22:31741846-31741855 chr22:31741842-31741851
40	ARID3A	chr22:31741855-31742012	HepG2	liver:	n/a	n/a
41	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
42	TAF1	chr22:31741846-31742183	PFSK-1	brain:	n/a	n/a
43	CTCF	chr22:31741880-31742030	HCT-116	colon:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31741936-31741952
44	MYBL2	chr22:31741677-31742108	HepG2	liver:	n/a	n/a
45	MYC	chr22:31741870-31742090	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr22:31741862-31742062	HUVEC	blood vessel:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
47	MYC	chr22:31741729-31742533	K562	blood:	n/a	chr22:31741801-31741811
48	POLR2A	chr22:31740214-31742000	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
50	PAX5	chr22:31741853-31742132	GM12891	blood:	n/a	chr22:31741948-31741957

No.	Distal block	Cell Line	Cell type
1	chr22:31740767..31742486-chr9:131903487..131906077,2	MCF-7	breast:
2	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
3	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
4	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
5	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
6	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
7	chr22:31687347..31689011-chr22:31741919..31743859,2	K562	blood:
8	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
9	chr11:62603352..62605695-chr22:31741151..31743312,2	MCF-7	breast:
10	chr13:111367281..111367960-chr22:31741994..31742502,2	Hela-S3	cervix:
11	chr12:111125271..111126771-chr22:31740803..31742794,2	MCF-7	breast:
12	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
13	chr2:27545885..27546452-chr22:31741459..31742305,2	Hela-S3	cervix:
14	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
15	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
16	chr22:31741632..31742462-chr22:31794953..31795605,3	Hela-S3	cervix:
17	chr22:31741801..31743589-chr22:31885070..31888024,2	K562	blood:

Variant related genes	Relation type
ENSG00000213888	TF binding region
PATZ1	TF binding region
ENSG00000153487	Chromatin interaction
ENSG00000122986	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000115204	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000119383	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000136938	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3425577	chr22:31740977-31743925	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	esv3430625	chr22:31741352-31743850	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	esv3436412	chr22:31741852-31743450	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31738400-31743800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:31738800-31743800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:31739600-31742000	Flanking Active TSS	Right Ventricle	heart
4	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr22:31740600-31743800	Active TSS	Fetal Kidney	kidney
6	chr22:31741000-31743000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:31741000-31743200	Transcr. at gene 5' and 3'	Right Atrium	heart
8	chr22:31741000-31743400	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr22:31741000-31743600	Active TSS	HSMMtube	muscle
10	chr22:31741000-31743800	Active TSS	Brain Substantia Nigra	brain
11	chr22:31741000-31744000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr22:31741000-31744200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr22:31741200-31742000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:31741200-31742000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
15	chr22:31741200-31742800	Active TSS	Primary T cells from cord blood	blood
16	chr22:31741200-31743000	Active TSS	Osteobl	bone
17	chr22:31741200-31743200	Active TSS	Fetal Thymus	thymus
18	chr22:31741200-31743200	Active TSS	HepG2	liver
19	chr22:31741200-31743400	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr22:31741200-31743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:31741200-31743600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:31741200-31743600	Active TSS	Brain Angular Gyrus	brain
23	chr22:31741200-31743600	Active TSS	NHDF-Ad	bronchial
24	chr22:31741200-31743800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:31741200-31743800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:31741200-31743800	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr22:31741200-31743800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr22:31741200-31743800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31741200-31743800	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr22:31741200-31743800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:31741200-31743800	Active TSS	Fetal Intestine Large	intestine
32	chr22:31741200-31743800	Active TSS	Gastric	stomach
33	chr22:31741200-31743800	Active TSS	Ovary	ovary
34	chr22:31741200-31743800	Active TSS	Hela-S3	cervix
35	chr22:31741200-31744000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr22:31741200-31744000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr22:31741200-31744000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:31741200-31744000	Active TSS	Psoas Muscle	Psoas
39	chr22:31741200-31744200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr22:31741200-31744200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr22:31741200-31744200	Active TSS	Colon Smooth Muscle	Colon
42	chr22:31741200-31744200	Active TSS	Fetal Brain Female	brain
43	chr22:31741400-31742800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr22:31741400-31742800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:31741400-31743000	Active TSS	Pancreas	Pancrea
46	chr22:31741400-31743000	Active TSS	NHEK	skin
47	chr22:31741400-31743200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:31741400-31743400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr22:31741400-31743400	Active TSS	Brain Germinal Matrix	brain
50	chr22:31741400-31743600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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