Variant report

Variant	rs62236171
Chromosome Location	chr22:31743999-31744000
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	E2F6	chr22:31743281-31744088	H1-hESC	embryonic stem cell:	n/a	chr22:31743468-31743478 chr22:31743483-31743495 chr22:31743664-31743679
2	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
3	HDAC2	chr22:31743342-31744002	MCF-7	breast:	n/a	n/a
4	MAX	chr22:31743261-31744061	H1-hESC	embryonic stem cell:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
5	MAX	chr22:31742670-31744105	HepG2	liver:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
6	MAX	chr22:31743343-31744030	H1-hESC	embryonic stem cell:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
7	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
8	MTA3	chr22:31742647-31744163	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
10	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
11	STAT5A	chr22:31742791-31744065	GM12878	blood:	n/a	chr22:31742931-31742945 chr22:31742934-31742942 chr22:31743581-31743604 chr22:31742928-31742948
12	POLR2A	chr22:31741553-31744018	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr22:31739705-31744036	GM19193	blood:	n/a	n/a
14	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
15	POLR2A	chr22:31742687-31744115	GM12892	blood:	n/a	n/a
16	SIN3AK20	chr22:31741116-31744158	MCF-7	breast:	n/a	n/a
17	EP300	chr22:31742927-31744024	ECC-1	luminal epithelium:	n/a	chr22:31743474-31743490
18	MAX	chr22:31743255-31744060	MCF-7	breast:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
19	POLR2A	chr22:31740928-31744061	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr22:31740932-31744065	IMR90	lung:	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
21	HA-E2F1	chr22:31742960-31744043	MCF-7	breast:	n/a	chr22:31743468-31743478 chr22:31743483-31743495 chr22:31743668-31743679 chr22:31743664-31743679
22	GATA3	chr22:31742673-31744021	MCF-7	breast:	n/a	n/a
23	POLR2A	chr22:31737335-31744213	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr22:31742630-31744081	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:31742713-31744064	GM12891	blood:	n/a	n/a
26	POLR2A	chr22:31738110-31744074	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr22:31741715-31744001	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr22:31741705-31744017	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr22:31739924-31744267	HepG2	liver:	n/a	n/a
30	MAX	chr22:31739223-31744088	MCF-7	breast:	n/a	chr22:31743680-31743689 chr22:31742542-31742552 chr22:31741597-31741607 chr22:31739995-31740004 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31743707-31743716 chr22:31741681-31741697
31	POLR2A	chr22:31739395-31744061	GM12878	blood:	n/a	n/a
32	MAX	chr22:31742624-31744057	ECC-1	luminal epithelium:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
33	BCLAF1	chr22:31743103-31744033	GM12878	blood:	n/a	chr22:31743466-31743479 chr22:31743289-31743302
34	POLR2A	chr22:31742621-31744061	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr22:31742633-31744045	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr22:31742637-31744045	SK-N-SH	brain:	n/a	n/a
37	E2F6	chr22:31742677-31744164	H1-hESC	embryonic stem cell:	n/a	chr22:31743468-31743478 chr22:31743483-31743495 chr22:31743664-31743679
38	TCF12	chr22:31742048-31744165	A549	lung:	n/a	chr22:31743097-31743107
39	POLR2A	chr22:31742623-31744021	GM12878	blood:	n/a	n/a
40	NR2F2	chr22:31743423-31744021	MCF-7	breast:	n/a	n/a
41	POLR2A	chr22:31742648-31744194	SK-N-MC	brain:	n/a	n/a
42	ATF2	chr22:31743420-31744016	GM12878	blood:	n/a	n/a
43	POLR2A	chr22:31741632-31744073	HEK293	kidney:	n/a	n/a
44	POLR2A	chr22:31742849-31744012	PBDE	blood:	n/a	n/a
45	MAX	chr22:31741357-31744098	HepG2	liver:	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
46	POLR2A	chr22:31742646-31744074	GM12892	blood:	n/a	n/a
47	MAX	chr22:31742677-31744148	HCT-116	colon:	n/a	chr22:31743680-31743689 chr22:31743707-31743716
48	HCFC1	chr22:31741653-31744047	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr22:31738209-31744086	HL-60	blood:	n/a	n/a
50	POLR2A	chr22:31742072-31744039	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
2	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
3	chr10:74033244..74035559-chr22:31742440..31745127,2	MCF-7	breast:
4	chr22:31742672..31744282-chr22:31844664..31847017,2	MCF-7	breast:
5	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
6	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
7	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:
8	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
9	chr22:31696471..31699232-chr22:31743755..31746050,2	MCF-7	breast:

Variant related genes	Relation type
PATZ1	TF binding region
ENSG00000198089	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000182541	Chromatin interaction
ENSG00000168209	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16989519	0.80[EUR][1000 genomes]
rs17833442	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2180142	0.82[EUR][1000 genomes]
rs55888048	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55997441	0.80[EUR][1000 genomes]
rs62236168	0.80[EUR][1000 genomes]
rs62236170	0.80[EUR][1000 genomes]
rs62236183	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62237437	0.80[EUR][1000 genomes]
rs62237446	0.80[EUR][1000 genomes]
rs62239378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs878654	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv1816779	chr22:31743711-31797094	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr22:31741000-31744000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:31741000-31744200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr22:31741200-31744000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:31741200-31744000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr22:31741200-31744000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31741200-31744000	Active TSS	Psoas Muscle	Psoas
8	chr22:31741200-31744200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr22:31741200-31744200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr22:31741200-31744200	Active TSS	Colon Smooth Muscle	Colon
11	chr22:31741200-31744200	Active TSS	Fetal Brain Female	brain
12	chr22:31741400-31744000	Active TSS	A549	lung
13	chr22:31741600-31744200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr22:31742600-31744000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr22:31742800-31744000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr22:31742800-31744000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:31742800-31744000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr22:31742800-31744000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr22:31742800-31744000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr22:31742800-31744000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:31742800-31744000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr22:31742800-31744000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr22:31742800-31744000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:31742800-31744000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr22:31742800-31744000	Flanking Active TSS	Liver	Liver
26	chr22:31742800-31744000	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr22:31742800-31744000	Flanking Active TSS	Placenta	Placenta
28	chr22:31742800-31744000	Flanking Active TSS	HUVEC	blood vessel
29	chr22:31742800-31744000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr22:31742800-31744000	Flanking Active TSS	NH-A	brain
31	chr22:31742800-31744200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr22:31742800-31744200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr22:31742800-31744200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:31742800-31744200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:31743000-31744000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:31743000-31744000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:31743000-31744000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:31743000-31744000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:31743000-31744000	Flanking Active TSS	Pancreas	Pancrea
40	chr22:31743000-31744000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr22:31743000-31744000	Flanking Active TSS	NHEK	skin
42	chr22:31743200-31744000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:31743200-31744000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr22:31743200-31744000	Flanking Active TSS	Fetal Thymus	thymus
45	chr22:31743200-31744200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:31743400-31744000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:31743400-31744000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr22:31743400-31744000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr22:31743400-31744000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr22:31743400-31744000	Flanking Active TSS	Brain Germinal Matrix	brain

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