Variant report

Variant	rs566389111
Chromosome Location	chr22:31743259-31743260
allele	C/T
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	STAT5A	chr22:31742614-31743949	GM12878	blood:	n/a	chr22:31742787-31742799 chr22:31742931-31742945 chr22:31742781-31742793 chr22:31742934-31742942 chr22:31743581-31743604 chr22:31742928-31742948
2	MTA3	chr22:31743138-31743944	GM12878	blood:	n/a	n/a
3	YY1	chr22:31743179-31743837	ECC-1	luminal epithelium:	n/a	chr22:31743288-31743302 chr22:31743465-31743479
4	TAF1	chr22:31742687-31743749	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPD	chr22:31742153-31743293	HepG2	liver:	n/a	n/a
6	EP300	chr22:31743067-31743274	GM12878	blood:	n/a	n/a
7	YY1	chr22:31743171-31743790	GM12892	blood:	n/a	chr22:31743288-31743302 chr22:31743465-31743479
8	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
9	POLR2A	chr22:31742756-31743947	GM12891	blood:	n/a	n/a
10	YY1	chr22:31743228-31743835	HepG2	liver:	n/a	chr22:31743288-31743302 chr22:31743465-31743479
11	YY1	chr22:31742639-31743799	GM12878	blood:	n/a	chr22:31742855-31742869 chr22:31743288-31743302 chr22:31743465-31743479 chr22:31742817-31742831
12	RFX5	chr22:31742807-31743782	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr22:31742679-31743298	HepG2	liver:	n/a	n/a
14	POLR2A	chr22:31743243-31743888	HepG2	liver:	n/a	n/a
15	POLR2A	chr22:31742743-31743616	Gliobla	brain:	n/a	n/a
16	TAF1	chr22:31742652-31743557	H1-neurons	neurons:	n/a	n/a
17	MAX	chr22:31742670-31744105	HepG2	liver:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
18	POLR2A	chr22:31742723-31743854	GM12878	blood:	n/a	n/a
19	CHD1	chr22:31742799-31743871	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:31742657-31743913	Hela-S3	cervix:	n/a	n/a
22	MTA3	chr22:31742647-31744163	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
24	POLR2A	chr22:31742640-31743851	A549	lung:	n/a	n/a
25	MAZ	chr22:31741732-31743758	HepG2	liver:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716
26	POU2F2	chr22:31742667-31744003	GM12891	blood:	n/a	chr22:31743609-31743618 chr22:31743609-31743619 chr22:31743609-31743619 chr22:31743610-31743617 chr22:31743606-31743621 chr22:31743608-31743620 chr22:31742785-31742797 chr22:31743242-31743254
27	STAT5A	chr22:31742791-31744065	GM12878	blood:	n/a	chr22:31742931-31742945 chr22:31742934-31742942 chr22:31743581-31743604 chr22:31742928-31742948
28	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
29	POLR2A	chr22:31741553-31744018	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr22:31739705-31744036	GM19193	blood:	n/a	n/a
31	MAX	chr22:31742887-31743831	HepG2	liver:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
32	TAF7	chr22:31742617-31743851	H1-hESC	embryonic stem cell:	n/a	n/a
33	TBP	chr22:31741926-31743733	HepG2	liver:	n/a	n/a
34	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
35	CTBP2	chr22:31742825-31743853	H1-hESC	embryonic stem cell:	n/a	n/a
36	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
37	RUNX3	chr22:31742637-31743903	GM12878	blood:	n/a	n/a
38	POLR2A	chr22:31742636-31743892	GM12878	blood:	n/a	n/a
39	POLR2A	chr22:31742687-31744115	GM12892	blood:	n/a	n/a
40	MAZ	chr22:31741755-31743941	Hela-S3	cervix:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716
41	SIN3AK20	chr22:31741116-31744158	MCF-7	breast:	n/a	n/a
42	GATA1	chr22:31742850-31743683	PBDE	blood:	n/a	n/a
43	YY1	chr22:31743254-31743685	A549	lung:	n/a	chr22:31743288-31743302 chr22:31743465-31743479
44	TCF12	chr22:31742688-31743813	ECC-1	luminal epithelium:	n/a	chr22:31743097-31743107
45	POLR2A	chr22:31740327-31743901	GM12892	blood:	n/a	n/a
46	EP300	chr22:31742927-31744024	ECC-1	luminal epithelium:	n/a	chr22:31743474-31743490
47	SP1	chr22:31743124-31743846	A549	lung:	n/a	chr22:31743191-31743200
48	MAX	chr22:31743255-31744060	MCF-7	breast:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
49	POLR2A	chr22:31740928-31744061	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr22:31742688-31743940	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31743200..31743724-chr6:34204462..34205262,2	Hela-S3	cervix:
2	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
3	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
4	chr10:74033244..74035559-chr22:31742440..31745127,2	MCF-7	breast:
5	chr22:31742672..31744282-chr22:31844664..31847017,2	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	chr19:39897457..39898040-chr22:31742813..31743704,2	Hela-S3	cervix:
11	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
12	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:
13	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
14	chr22:31741801..31743589-chr22:31885070..31888024,2	K562	blood:

Variant related genes	Relation type
PATZ1	TF binding region
ENSG00000184708	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000185721	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	chr22:31741000-31743400	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr22:31741000-31743600	Active TSS	HSMMtube	muscle
7	chr22:31741000-31743800	Active TSS	Brain Substantia Nigra	brain
8	chr22:31741000-31744000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:31741000-31744200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr22:31741200-31743400	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr22:31741200-31743600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:31741200-31743600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:31741200-31743600	Active TSS	Brain Angular Gyrus	brain
14	chr22:31741200-31743600	Active TSS	NHDF-Ad	bronchial
15	chr22:31741200-31743800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:31741200-31743800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:31741200-31743800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr22:31741200-31743800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr22:31741200-31743800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:31741200-31743800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr22:31741200-31743800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:31741200-31743800	Active TSS	Fetal Intestine Large	intestine
23	chr22:31741200-31743800	Active TSS	Gastric	stomach
24	chr22:31741200-31743800	Active TSS	Ovary	ovary
25	chr22:31741200-31743800	Active TSS	Hela-S3	cervix
26	chr22:31741200-31744000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:31741200-31744000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr22:31741200-31744000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:31741200-31744000	Active TSS	Psoas Muscle	Psoas
30	chr22:31741200-31744200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr22:31741200-31744200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:31741200-31744200	Active TSS	Colon Smooth Muscle	Colon
33	chr22:31741200-31744200	Active TSS	Fetal Brain Female	brain
34	chr22:31741400-31743400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr22:31741400-31743400	Active TSS	Brain Germinal Matrix	brain
36	chr22:31741400-31743600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:31741400-31743600	Active TSS	Fetal Lung	lung
38	chr22:31741400-31743800	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr22:31741400-31743800	Active TSS	Aorta	Aorta
40	chr22:31741400-31743800	Active TSS	Brain Anterior Caudate	brain
41	chr22:31741400-31743800	Active TSS	Fetal Intestine Small	intestine
42	chr22:31741400-31743800	Active TSS	Rectal Smooth Muscle	rectum
43	chr22:31741400-31743800	Active TSS	Small Intestine	intestine
44	chr22:31741400-31743800	Active TSS	Thymus	Thymus
45	chr22:31741400-31743800	Active TSS	NHLF	lung
46	chr22:31741400-31744000	Active TSS	A549	lung
47	chr22:31741600-31743400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr22:31741600-31743400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr22:31741600-31743600	Active TSS	Brain Cingulate Gyrus	brain
50	chr22:31741600-31743600	Active TSS	Brain Hippocampus Middle	brain

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