Variant report

Variant	rs545354615
Chromosome Location	chr22:29467731-29467732
allele	A/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	HNF4A	chr22:29467522-29467870	HepG2	liver:	n/a	n/a
2	RAD21	chr22:29467421-29467737	HepG2	liver:	n/a	n/a
3	MAX	chr22:29467234-29468090	HepG2	liver:	n/a	chr22:29467687-29467697
4	HDAC2	chr22:29467201-29467930	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr22:29467502-29467791	HepG2	liver:	n/a	n/a
6	CEBPD	chr22:29467321-29467794	HepG2	liver:	n/a	n/a
7	MYBL2	chr22:29467396-29467734	HepG2	liver:	n/a	n/a
8	YY1	chr22:29467373-29467818	HepG2	liver:	n/a	chr22:29467600-29467614 chr22:29467489-29467500 chr22:29467545-29467559 chr22:29467542-29467551
9	E2F6	chr22:29467318-29467971	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
10	MAX	chr22:29467344-29467925	H1-hESC	embryonic stem cell:	n/a	chr22:29467687-29467697
11	POLR2A	chr22:29467335-29467754	HepG2	liver:	n/a	n/a
12	MAZ	chr22:29467523-29467742	HepG2	liver:	n/a	chr22:29467687-29467697
13	PAX5	chr22:29467435-29467736	GM12892	blood:	n/a	n/a
14	TCF7L2	chr22:29467317-29467772	HEK293	kidney:	n/a	n/a
15	EP300	chr22:29467420-29467843	HepG2	liver:	n/a	chr22:29467543-29467559
16	MYC	chr22:29467282-29467952	MCF10A-Er-Src	breast:	n/a	chr22:29467687-29467697
17	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
18	HA-E2F1	chr22:29467364-29467773	Hela-S3	cervix:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
19	GATA1	chr22:29467561-29468374	PBDE	blood:	n/a	n/a
20	MAZ	chr22:29467498-29468056	GM12878	blood:	n/a	chr22:29467687-29467697
21	MAX	chr22:29467518-29467800	HepG2	liver:	n/a	chr22:29467687-29467697
22	E2F6	chr22:29467339-29467969	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
23	MAX	chr22:29467141-29468028	HepG2	liver:	n/a	chr22:29467148-29467158 chr22:29467687-29467697
24	TCF7L2	chr22:29467402-29467790	HCT-116	colon:	n/a	n/a
25	BHLHE40	chr22:29467696-29467891	GM12878	blood:	n/a	n/a
26	RAD21	chr22:29467398-29467804	H1-hESC	embryonic stem cell:	n/a	n/a
27	E2F4	chr22:29467374-29468061	MCF10A-Er-Src	breast:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
28	POLR2A	chr22:29467257-29467801	GM12892	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29467684-29467734	U87	brain:	n/a
2	chr22:29467684-29467734	HRPEpiC	eye:	n/a
3	chr22:29467684-29467734	Jurkat	blood:	n/a
4	chr22:29467684-29467734	PFSK-1	brain:	n/a
5	chr22:29467684-29467734	HCT-116	colon:	n/a
6	chr22:29467684-29467734	BE2_C	brain:	n/a
7	chr22:29467684-29467734	HCPEpiC	choroid plexus:	n/a
8	chr22:29467684-29467734	GM06990	blood:	n/a
9	chr22:29467684-29467734	ovcar-3	ovarian:	n/a
10	chr22:29467684-29467734	HIPEpiC	eye:	n/a
11	chr22:29467684-29467734	ProgFib	skin:	n/a
12	chr22:29467684-29467734	HAEpiC	amniotic membrane:	n/a
13	chr22:29467684-29467734	HEEpiC	esophagus:	n/a
14	chr22:29467684-29467734	BJ	skin:	n/a
15	chr22:29467684-29467734	AG04450	lung:	fetal
16	chr22:29467684-29467734	AG10803	skin:	n/a
17	chr22:29467684-29467734	A549	lung:	n/a
18	chr22:29467684-29467734	AG04449	skin:	fetal
19	chr22:29467684-29467734	ECC-1	luminal epithelium:	n/a
20	chr22:29467684-29467734	Hela-S3	cervix:	n/a
21	chr22:29467684-29467734	SK-N-SH_RA	brain:	n/a
22	chr22:29467684-29467734	HNPCEpiC	eye:	n/a
23	chr22:29467684-29467734	NT2-D1	testis:	n/a
24	chr22:29467684-29467734	SK-N-SH	brain:	n/a
25	chr22:29467684-29467734	NHDF-neo	bronchial:	n/a
26	chr22:29467684-29467734	HCM	heart:	n/a
27	chr22:29467684-29467734	GM12891	blood:	n/a
28	chr22:29467684-29467734	RPTEC	kidney:	n/a
29	chr22:29467684-29467734	H1-hESC	embryonic stem cell:	embryo
30	chr22:29467684-29467734	HEK293	kidney:	embryo
31	chr22:29467684-29467734	HRE	kidney:	n/a
32	chr22:29467684-29467734	LNCaP	prostate:	n/a
33	chr22:29467684-29467734	Caco-2	colon:	n/a
34	chr22:29467684-29467734	GM12878	blood:	n/a
35	chr22:29467684-29467734	AG09309	skin:	n/a
36	chr22:29467684-29467734	PrEC	prostate:	n/a
37	chr22:29467684-29467734	HepG2	liver:	n/a
38	chr22:29467684-29467734	NH-A	brain:	n/a
39	chr22:29467684-29467734	HCF	heart:	n/a
40	chr22:29467684-29467734	T-47D	breast:	n/a
41	chr22:29467684-29467734	GM12892	blood:	n/a
42	chr22:29467684-29467734	MCF-7	breast:	n/a
43	chr22:29467684-29467734	IMR90	lung:	fetal
44	chr22:29467684-29467734	Hepatocyte	liver:	n/a
45	chr22:29467684-29467734	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:29467684-29467734	GM19239	blood:	n/a
47	chr22:29467684-29467734	AoSMC	blood vessel:	n/a
48	chr22:29467684-29467734	HMEC	breast:	n/a
49	chr22:29467684-29467734	AG09319	gingival:	n/a
50	chr22:29467684-29467734	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:

Variant related genes	Relation type
KREMEN1	TF binding region
KREMEN1	CpG island
ENSG00000183579	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524259	chr22:29467221-29482221	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29463800-29468400	Weak transcription	Dnd41	blood
5	chr22:29465800-29467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:29466400-29467800	Enhancers	Placenta	Placenta
8	chr22:29466600-29467800	Enhancers	Stomach Mucosa	stomach
9	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
10	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:29467000-29467800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr22:29467000-29468000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
15	chr22:29467200-29467800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:29467200-29467800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr22:29467200-29467800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr22:29467200-29467800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr22:29467200-29467800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr22:29467200-29467800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr22:29467200-29467800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:29467200-29467800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:29467200-29467800	Enhancers	Brain Cingulate Gyrus	brain
24	chr22:29467200-29467800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr22:29467200-29467800	Active TSS	Colon Smooth Muscle	Colon
26	chr22:29467200-29467800	Active TSS	Duodenum Mucosa	Duodenum
27	chr22:29467200-29467800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr22:29467200-29467800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr22:29467200-29467800	Active TSS	Rectal Smooth Muscle	rectum
30	chr22:29467200-29467800	Enhancers	NHDF-Ad	bronchial
31	chr22:29467200-29468000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr22:29467200-29468000	Active TSS	Brain Anterior Caudate	brain
33	chr22:29467200-29468000	Active TSS	A549	lung
34	chr22:29467200-29468200	Active TSS	Fetal Intestine Large	intestine
35	chr22:29467200-29468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr22:29467200-29468400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:29467200-29468400	Weak transcription	K562	blood
38	chr22:29467200-29468600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr22:29467200-29468600	Weak transcription	Gastric	stomach
40	chr22:29467200-29468600	Enhancers	Left Ventricle	heart
41	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
44	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr22:29467200-29470400	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr22:29467200-29470600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr22:29467200-29471200	Active TSS	Ovary	ovary
49	chr22:29467400-29467800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:29467400-29467800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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