Variant report

Variant	rs183279221
Chromosome Location	chr22:30443413-30443414
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	IRF1	chr22:30443285-30443689	K562	blood:	n/a	n/a
2	CTCF	chr22:30443400-30443550	HepG2	liver:	n/a	n/a
3	IRF1	chr22:30443083-30443723	K562	blood:	n/a	n/a
4	IRF1	chr22:30443358-30443677	K562	blood:	n/a	n/a
5	E2F6	chr22:30443413-30443600	K562	blood:	n/a	n/a
6	ELF1	chr22:30443363-30443717	K562	blood:	n/a	chr22:30443566-30443579
7	CTCF	chr22:30443400-30443690	GM12868	blood:	n/a	n/a
8	HCFC1	chr22:30443378-30443760	K562	blood:	n/a	n/a
9	CTCF	chr22:30443360-30443510	GM12869	blood:	n/a	n/a
10	GABPA	chr22:30443410-30443686	K562	blood:	n/a	n/a
11	CTCF	chr22:30443400-30443550	HL-60	blood:	n/a	n/a
12	CTCF	chr22:30443380-30443530	AG04450	lung:	n/a	n/a

Variant related genes	Relation type
CNN2P1	TF binding region

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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv964619	chr22:30440663-30444496	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3366248	chr22:30443364-30448009	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3455785	chr22:30443411-30447963	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30423600-30447600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:30430200-30449600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:30435000-30450600	Weak transcription	Gastric	stomach
4	chr22:30438200-30448200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:30440800-30444400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr22:30441000-30444400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:30441200-30444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:30441400-30450600	Weak transcription	Adipose Nuclei	Adipose
9	chr22:30442200-30443800	Weak transcription	Stomach Mucosa	stomach
10	chr22:30442800-30443600	Enhancers	Spleen	Spleen
11	chr22:30442800-30443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr22:30442800-30443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:30443000-30443600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr22:30443000-30443600	Enhancers	Thymus	Thymus
15	chr22:30443000-30443600	Active TSS	K562	blood
16	chr22:30443000-30443800	Enhancers	Primary B cells from peripheral blood	blood
17	chr22:30443000-30443800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:30443000-30443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30443000-30443800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:30443000-30444000	Enhancers	Fetal Thymus	thymus
21	chr22:30443000-30444200	Flanking Active TSS	Dnd41	blood
22	chr22:30443000-30444800	Enhancers	Fetal Intestine Small	intestine
23	chr22:30443000-30446800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:30443000-30449400	Weak transcription	HepG2	liver
25	chr22:30443200-30443600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr22:30443200-30443800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr22:30443200-30443800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr22:30443400-30443600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr22:30443400-30443600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr22:30443400-30443600	Active TSS	Duodenum Mucosa	Duodenum
31	chr22:30443400-30443600	Enhancers	Esophagus	oesophagus
32	chr22:30443400-30443600	Enhancers	Fetal Muscle Leg	muscle
33	chr22:30443400-30443800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr22:30443400-30443800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr22:30443400-30443800	Enhancers	Liver	Liver
36	chr22:30443400-30443800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr22:30443400-30444200	Enhancers	Fetal Intestine Large	intestine
38	chr22:30443400-30445000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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