Variant report

Variant	rs554155300
Chromosome Location	chr22:29467429-29467430
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	EBF1	chr22:29467165-29467574	GM12878	blood:	n/a	chr22:29467350-29467361
2	POLR2A	chr22:29467340-29467620	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr22:29467421-29467737	HepG2	liver:	n/a	n/a
4	HEY1	chr22:29467414-29467628	HepG2	liver:	n/a	chr22:29467496-29467511 chr22:29467540-29467555 chr22:29467544-29467559 chr22:29467598-29467613
5	MAX	chr22:29467234-29468090	HepG2	liver:	n/a	chr22:29467687-29467697
6	HDAC2	chr22:29467201-29467930	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:29467306-29467677	HepG2	liver:	n/a	n/a
8	CEBPD	chr22:29467321-29467794	HepG2	liver:	n/a	n/a
9	MYBL2	chr22:29467396-29467734	HepG2	liver:	n/a	n/a
10	YY1	chr22:29467373-29467818	HepG2	liver:	n/a	chr22:29467600-29467614 chr22:29467489-29467500 chr22:29467545-29467559 chr22:29467542-29467551
11	POLR2A	chr22:29467426-29467622	GM12878	blood:	n/a	n/a
12	POLR2A	chr22:29467381-29467639	A549	lung:	n/a	n/a
13	E2F6	chr22:29467318-29467971	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
14	MAX	chr22:29467344-29467925	H1-hESC	embryonic stem cell:	n/a	chr22:29467687-29467697
15	POLR2A	chr22:29467335-29467754	HepG2	liver:	n/a	n/a
16	HEY1	chr22:29467402-29467707	HepG2	liver:	n/a	chr22:29467496-29467511 chr22:29467540-29467555 chr22:29467544-29467559 chr22:29467598-29467613
17	POLR2A	chr22:29467411-29467627	HepG2	liver:	n/a	n/a
18	PAX5	chr22:29467427-29467679	GM12878	blood:	n/a	n/a
19	TCF7L2	chr22:29467317-29467772	HEK293	kidney:	n/a	n/a
20	TAF1	chr22:29467416-29467706	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:29467376-29467723	HepG2	liver:	n/a	n/a
22	EP300	chr22:29467420-29467843	HepG2	liver:	n/a	chr22:29467543-29467559
23	MYC	chr22:29467282-29467952	MCF10A-Er-Src	breast:	n/a	chr22:29467687-29467697
24	EGR1	chr22:29467213-29467446	K562	blood:	n/a	chr22:29467299-29467313
25	POLR2A	chr22:29467188-29468888	PBDE	blood:	n/a	n/a
26	POLR2A	chr22:29467410-29467586	A549	lung:	n/a	n/a
27	POLR2A	chr22:29467384-29467712	HepG2	liver:	n/a	n/a
28	HA-E2F1	chr22:29467364-29467773	Hela-S3	cervix:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
29	POLR2A	chr22:29467396-29467604	HepG2	liver:	n/a	n/a
30	E2F6	chr22:29467339-29467969	H1-hESC	embryonic stem cell:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
31	POLR2A	chr22:29467302-29467675	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr22:29467191-29467642	GM12878	blood:	n/a	chr22:29467350-29467361
33	MAX	chr22:29467141-29468028	HepG2	liver:	n/a	chr22:29467148-29467158 chr22:29467687-29467697
34	TCF7L2	chr22:29467402-29467790	HCT-116	colon:	n/a	n/a
35	CTCF	chr22:29467420-29467570	Caco-2	colon:	n/a	n/a
36	RAD21	chr22:29467398-29467804	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F4	chr22:29467374-29468061	MCF10A-Er-Src	breast:	n/a	chr22:29467536-29467548 chr22:29467605-29467614 chr22:29467607-29467617 chr22:29467540-29467550
38	POLR2A	chr22:29467257-29467801	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
KREMEN1	TF binding region

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:103 , 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	chr22:29466800-29467600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:29467000-29467600	Enhancers	Liver	Liver
13	chr22:29467000-29467800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
14	chr22:29467000-29468000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
17	chr22:29467200-29467600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:29467200-29467600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr22:29467200-29467600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr22:29467200-29467800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:29467200-29467800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr22:29467200-29467800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr22:29467200-29467800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr22:29467200-29467800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr22:29467200-29467800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr22:29467200-29467800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr22:29467200-29467800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:29467200-29467800	Enhancers	Brain Cingulate Gyrus	brain
29	chr22:29467200-29467800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr22:29467200-29467800	Active TSS	Colon Smooth Muscle	Colon
31	chr22:29467200-29467800	Active TSS	Duodenum Mucosa	Duodenum
32	chr22:29467200-29467800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr22:29467200-29467800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr22:29467200-29467800	Active TSS	Rectal Smooth Muscle	rectum
35	chr22:29467200-29467800	Enhancers	NHDF-Ad	bronchial
36	chr22:29467200-29468000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr22:29467200-29468000	Active TSS	Brain Anterior Caudate	brain
38	chr22:29467200-29468000	Active TSS	A549	lung
39	chr22:29467200-29468200	Active TSS	Fetal Intestine Large	intestine
40	chr22:29467200-29468400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr22:29467200-29468400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:29467200-29468400	Weak transcription	K562	blood
43	chr22:29467200-29468600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
44	chr22:29467200-29468600	Weak transcription	Gastric	stomach
45	chr22:29467200-29468600	Enhancers	Left Ventricle	heart
46	chr22:29467200-29468800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:29467200-29468800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr22:29467200-29469000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr22:29467200-29470200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr22:29467200-29470400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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