Variant report

Variant	rs146581828
Chromosome Location	chr22:31741559-31741560
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	TCF12	chr22:31741551-31741743	GM12878	blood:	n/a	n/a
3	CTCF	chr22:31741427-31742121	GM19238	blood:	n/a	chr22:31741938-31741951 chr22:31741935-31741953 chr22:31741938-31741951 chr22:31742043-31742056 chr22:31741936-31741952
4	POLR2A	chr22:31738526-31742192	GM12892	blood:	n/a	n/a
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	CHD2	chr22:31741453-31742067	H1-hESC	embryonic stem cell:	n/a	chr22:31741625-31741635
7	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
8	TCF12	chr22:31741374-31742605	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr22:31741313-31742050	GM12891	blood:	n/a	n/a
10	POLR2A	chr22:31738630-31742577	GM12892	blood:	n/a	n/a
11	POLR2A	chr22:31741151-31744106	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr22:31740214-31742000	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr22:31739492-31744047	Raji	blood:	n/a	n/a
14	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
15	POLR2A	chr22:31738497-31742182	SK-N-MC	brain:	n/a	n/a
16	TAF1	chr22:31741378-31742497	HepG2	liver:	n/a	n/a
17	GTF2F1	chr22:31741553-31741600	H1-hESC	embryonic stem cell:	n/a	n/a
18	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
19	POLR2A	chr22:31741553-31744018	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr22:31739705-31744036	GM19193	blood:	n/a	n/a
21	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
22	POLR2A	chr22:31739252-31742187	GM12892	blood:	n/a	n/a
23	TEAD4	chr22:31741533-31742193	ECC-1	luminal epithelium:	n/a	n/a
24	SIN3AK20	chr22:31741116-31744158	MCF-7	breast:	n/a	n/a
25	POLR2A	chr22:31741319-31742194	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr22:31740327-31743901	GM12892	blood:	n/a	n/a
27	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
28	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
29	SMC3	chr22:31741137-31742224	SK-N-SH	brain:	n/a	chr22:31741900-31741910 chr22:31742046-31742056 chr22:31741941-31741951
30	MAX	chr22:31741256-31742608	ECC-1	luminal epithelium:	n/a	chr22:31742542-31742552 chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31742595-31742605 chr22:31741681-31741697
31	POLR2A	chr22:31741443-31742572	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr22:31740928-31744061	Hela-S3	cervix:	n/a	n/a
33	MAX	chr22:31741416-31742181	K562	blood:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
34	POLR2A	chr22:31741362-31742655	H1-neurons	neurons:	n/a	n/a
35	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
36	USF1	chr22:31741467-31742154	ECC-1	luminal epithelium:	n/a	chr22:31741619-31741635
37	NFIC	chr22:31741526-31742539	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr22:31741420-31741570	HRE	kidney:	n/a	n/a
39	POLR2A	chr22:31741295-31743876	H1-neurons	neurons:	n/a	n/a
40	MYC	chr22:31741555-31741673	GM12878	blood:	n/a	chr22:31741597-31741607 chr22:31741628-31741638
41	POLR2A	chr22:31737335-31744213	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr22:31741225-31743877	NB4	blood:	n/a	n/a
43	POLR2A	chr22:31738110-31744074	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr22:31740327-31743929	GM18526	blood:	n/a	n/a
45	MAX	chr22:31741446-31742025	MCF-7	breast:	n/a	chr22:31741597-31741607 chr22:31741628-31741638 chr22:31741801-31741811 chr22:31741681-31741697
46	E2F6	chr22:31741070-31742113	H1-hESC	embryonic stem cell:	n/a	chr22:31741941-31741951 chr22:31741929-31741941 chr22:31741945-31741955 chr22:31741948-31741957 chr22:31741590-31741600 chr22:31741627-31741636 chr22:31742049-31742058
47	CTCF	chr22:31741520-31741670	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr22:31741459-31742576	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr22:31740202-31741601	GM12878	blood:	n/a	n/a
50	MTA3	chr22:31741485-31742150	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31740767..31742486-chr9:131903487..131906077,2	MCF-7	breast:
2	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
3	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
4	chr22:31740048..31742045-chr22:32339591..32341543,2	MCF-7	breast:
5	chr22:31739411..31743940-chr22:31792561..31797746,12	K562	blood:
6	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
7	chr11:62603352..62605695-chr22:31741151..31743312,2	MCF-7	breast:
8	chr12:111125271..111126771-chr22:31740803..31742794,2	MCF-7	breast:
9	chr22:31642721..31645848-chr22:31739450..31742880,5	MCF-7	breast:
10	chr2:27545885..27546452-chr22:31741459..31742305,2	Hela-S3	cervix:
11	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
12	chr22:31602004..31608593-chr22:31739507..31744494,7	MCF-7	breast:
13	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31738000-31741600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31738200-31741800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr22:31738400-31741600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
4	chr22:31738400-31743800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr22:31738600-31741600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr22:31738800-31741600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr22:31738800-31741600	Flanking Active TSS	HUVEC	blood vessel
8	chr22:31738800-31741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:31738800-31743800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:31739000-31741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:31739000-31741600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr22:31739000-31741600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr22:31739000-31741600	Flanking Active TSS	HSMM	muscle
14	chr22:31739200-31741600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr22:31739200-31741600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr22:31739200-31741600	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr22:31739200-31741800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:31739400-31741600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:31739400-31741600	Flanking Active TSS	Colonic Mucosa	Colon
20	chr22:31739400-31741800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr22:31739600-31741800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr22:31739600-31742000	Flanking Active TSS	Right Ventricle	heart
23	chr22:31739800-31741600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr22:31739800-31741600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr22:31740000-31741600	Enhancers	K562	blood
26	chr22:31740000-31744200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr22:31740200-31741600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:31740200-31741600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr22:31740200-31741800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr22:31740400-31741600	Enhancers	Fetal Heart	heart
31	chr22:31740600-31741600	Flanking Active TSS	Esophagus	oesophagus
32	chr22:31740600-31741800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr22:31740600-31741800	Flanking Active TSS	Liver	Liver
34	chr22:31740600-31741800	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr22:31740600-31743800	Active TSS	Fetal Kidney	kidney
36	chr22:31740800-31741600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:31740800-31741800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr22:31741000-31741600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
39	chr22:31741000-31741600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr22:31741000-31741600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:31741000-31741800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:31741000-31741800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:31741000-31741800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:31741000-31741800	Flanking Active TSS	Fetal Muscle Trunk	muscle
45	chr22:31741000-31741800	Flanking Active TSS	Placenta	Placenta
46	chr22:31741000-31741800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr22:31741000-31741800	Active TSS	GM12878-XiMat	blood
48	chr22:31741000-31741800	Flanking Active TSS	NH-A	brain
49	chr22:31741000-31743000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr22:31741000-31743200	Transcr. at gene 5' and 3'	Right Atrium	heart

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