Variant report

Variant	rs561059881
Chromosome Location	chr22:31742164-31742165
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	MAX	chr22:31741294-31742187	ECC-1	luminal epithelium:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
2	POLR2A	chr22:31738526-31742192	GM12892	blood:	n/a	n/a
3	SIN3A	chr22:31741641-31742487	GM12878	blood:	n/a	chr22:31741643-31741654 chr22:31742283-31742294 chr22:31742272-31742283
4	EGR1	chr22:31742134-31742592	MCF-7	breast:	n/a	chr22:31742341-31742350 chr22:31742295-31742305 chr22:31742542-31742555
5	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
6	CEBPD	chr22:31742153-31743293	HepG2	liver:	n/a	n/a
7	CTCF	chr22:31741723-31742180	K562	blood:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
8	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
9	POLR2A	chr22:31741618-31742165	HepG2	liver:	n/a	n/a
10	TCF12	chr22:31741374-31742605	ECC-1	luminal epithelium:	n/a	n/a
11	PAX5	chr22:31741701-31742550	GM12892	blood:	n/a	chr22:31742341-31742350 chr22:31741948-31741957
12	RAD21	chr22:31741793-31742175	K562	blood:	n/a	n/a
13	POLR2A	chr22:31738630-31742577	GM12892	blood:	n/a	n/a
14	MYC	chr22:31741645-31742586	K562	blood:	n/a	chr22:31742542-31742552 chr22:31741801-31741811 chr22:31741681-31741697
15	JUND	chr22:31741808-31742428	A549	lung:	n/a	chr22:31741933-31741942 chr22:31741846-31741855 chr22:31741842-31741851
16	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
17	TAF1	chr22:31741846-31742183	PFSK-1	brain:	n/a	n/a
18	MYC	chr22:31741729-31742533	K562	blood:	n/a	chr22:31741801-31741811
19	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
20	POLR2A	chr22:31741613-31742177	GM12891	blood:	n/a	n/a
21	YY1	chr22:31741485-31742579	HepG2	liver:	n/a	chr22:31741589-31741598 chr22:31741944-31741958 chr22:31742268-31742277 chr22:31742324-31742332 chr22:31742049-31742063 chr22:31742318-31742337 chr22:31741941-31741955 chr22:31741592-31741601 chr22:31741590-31741604 chr22:31742325-31742335 chr22:31741944-31741953 chr22:31742494-31742508 chr22:31741926-31741937 chr22:31742269-31742280 chr22:31742313-31742335
22	POLR2A	chr22:31738497-31742182	SK-N-MC	brain:	n/a	n/a
23	MAZ	chr22:31741732-31743758	HepG2	liver:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716
24	TAF1	chr22:31741378-31742497	HepG2	liver:	n/a	n/a
25	STAT1	chr22:31741832-31742348	GM12878	blood:	n/a	chr22:31741849-31741861 chr22:31741923-31741935
26	MAX	chr22:31741526-31743876	GM12878	blood:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
27	POLR2A	chr22:31741553-31744018	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr22:31739705-31744036	GM19193	blood:	n/a	n/a
29	POLR2A	chr22:31741840-31742577	Hela-S3	cervix:	n/a	n/a
30	HEY1	chr22:31741708-31742184	HepG2	liver:	n/a	chr22:31741947-31741962 chr22:31741925-31741940 chr22:31741801-31741816
31	POLR2A	chr22:31741614-31742592	A549	lung:	n/a	n/a
32	POLR2A	chr22:31741983-31742561	HepG2	liver:	n/a	n/a
33	TBP	chr22:31741926-31743733	HepG2	liver:	n/a	n/a
34	MYBL2	chr22:31742152-31742647	HepG2	liver:	n/a	n/a
35	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
36	POLR2A	chr22:31739252-31742187	GM12892	blood:	n/a	n/a
37	YY1	chr22:31741816-31742175	HCT-116	colon:	n/a	chr22:31741944-31741958 chr22:31742049-31742063 chr22:31741941-31741955 chr22:31741944-31741953 chr22:31741926-31741937
38	MAZ	chr22:31741666-31743841	GM12878	blood:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
39	YY1	chr22:31742111-31742553	HepG2	liver:	n/a	chr22:31742268-31742277 chr22:31742324-31742332 chr22:31742318-31742337 chr22:31742325-31742335 chr22:31742494-31742508 chr22:31742269-31742280 chr22:31742313-31742335
40	HA-E2F1	chr22:31741675-31742258	Hela-S3	cervix:	n/a	chr22:31741941-31741951 chr22:31741929-31741941 chr22:31741945-31741955 chr22:31741948-31741957 chr22:31742049-31742058
41	TEAD4	chr22:31741533-31742193	ECC-1	luminal epithelium:	n/a	n/a
42	MAZ	chr22:31741755-31743941	Hela-S3	cervix:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716
43	SIN3AK20	chr22:31741116-31744158	MCF-7	breast:	n/a	n/a
44	POLR2A	chr22:31741807-31742481	K562	blood:	n/a	n/a
45	POLR2A	chr22:31741319-31742194	H1-hESC	embryonic stem cell:	n/a	n/a
46	CCNT2	chr22:31741777-31742518	K562	blood:	n/a	n/a
47	POLR2A	chr22:31740327-31743901	GM12892	blood:	n/a	n/a
48	CTCF	chr22:31740681-31742604	SK-N-SH	brain:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742361-31742370 chr22:31742043-31742056 chr22:31741936-31741952
49	MAX	chr22:31741051-31742591	H1-hESC	embryonic stem cell:	n/a	chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
50	YY1	chr22:31741825-31742562	SK-N-SH_RA	brain:	n/a	chr22:31741944-31741958 chr22:31742268-31742277 chr22:31742324-31742332 chr22:31742049-31742063 chr22:31742318-31742337 chr22:31741941-31741955 chr22:31742325-31742335 chr22:31741944-31741953 chr22:31742494-31742508 chr22:31741926-31741937 chr22:31742269-31742280 chr22:31742313-31742335

No.	Distal block	Cell Line	Cell type
1	chr22:31740767..31742486-chr9:131903487..131906077,2	MCF-7	breast:
2	chr12:92539147..92539724-chr22:31742125..31742858,2	Hela-S3	cervix:
3	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
4	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
5	chr22:31737798..31746418-chr22:31793074..31801662,34	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
PATZ1	TF binding region
ENSG00000213888	TF binding region
ENSG00000115204	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000122986	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000119383	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	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:31740600-31743800	Active TSS	Fetal Kidney	kidney
5	chr22:31741000-31743000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:31741000-31743200	Transcr. at gene 5' and 3'	Right Atrium	heart
7	chr22:31741000-31743400	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr22:31741000-31743600	Active TSS	HSMMtube	muscle
9	chr22:31741000-31743800	Active TSS	Brain Substantia Nigra	brain
10	chr22:31741000-31744000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:31741000-31744200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:31741200-31742800	Active TSS	Primary T cells from cord blood	blood
13	chr22:31741200-31743000	Active TSS	Osteobl	bone
14	chr22:31741200-31743200	Active TSS	Fetal Thymus	thymus
15	chr22:31741200-31743200	Active TSS	HepG2	liver
16	chr22:31741200-31743400	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr22:31741200-31743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:31741200-31743600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:31741200-31743600	Active TSS	Brain Angular Gyrus	brain
20	chr22:31741200-31743600	Active TSS	NHDF-Ad	bronchial
21	chr22:31741200-31743800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:31741200-31743800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:31741200-31743800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr22:31741200-31743800	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr22:31741200-31743800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:31741200-31743800	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr22:31741200-31743800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31741200-31743800	Active TSS	Fetal Intestine Large	intestine
29	chr22:31741200-31743800	Active TSS	Gastric	stomach
30	chr22:31741200-31743800	Active TSS	Ovary	ovary
31	chr22:31741200-31743800	Active TSS	Hela-S3	cervix
32	chr22:31741200-31744000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:31741200-31744000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr22:31741200-31744000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:31741200-31744000	Active TSS	Psoas Muscle	Psoas
36	chr22:31741200-31744200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr22:31741200-31744200	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr22:31741200-31744200	Active TSS	Colon Smooth Muscle	Colon
39	chr22:31741200-31744200	Active TSS	Fetal Brain Female	brain
40	chr22:31741400-31742800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr22:31741400-31742800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:31741400-31743000	Active TSS	Pancreas	Pancrea
43	chr22:31741400-31743000	Active TSS	NHEK	skin
44	chr22:31741400-31743200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:31741400-31743400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr22:31741400-31743400	Active TSS	Brain Germinal Matrix	brain
47	chr22:31741400-31743600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:31741400-31743600	Active TSS	Fetal Lung	lung
49	chr22:31741400-31743800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr22:31741400-31743800	Active TSS	Aorta	Aorta

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