Variant report

Variant	rs4822915
Chromosome Location	chr22:27970129-27970130
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	CEBPB	chr22:27969988-27970225	H1-hESC	embryonic stem cell:	n/a	chr22:27970146-27970157
2	CEBPB	chr22:27970032-27970250	K562	blood:	n/a	chr22:27970146-27970157
3	REST	chr22:27968777-27970163	H1-neurons	neurons:	n/a	chr22:27969901-27969914 chr22:27969901-27969914
4	CEBPB	chr22:27969989-27970313	HepG2	liver:	n/a	chr22:27970146-27970157
5	CEBPB	chr22:27969977-27970314	A549	lung:	n/a	chr22:27970146-27970157
6	CEBPB	chr22:27969976-27970331	IMR90	lung:	n/a	chr22:27970146-27970157
7	CEBPB	chr22:27970082-27970327	Hela-S3	cervix:	n/a	chr22:27970146-27970157

Variant related genes	Relation type
ENSG00000224027	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1547072	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985031	1.00[AFR][1000 genomes]
rs2273202	1.00[AFR][1000 genomes]
rs45475195	1.00[AFR][1000 genomes]
rs4820767	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4822905	1.00[AFR][1000 genomes]
rs4822910	1.00[AFR][1000 genomes]
rs4822911	1.00[AFR][1000 genomes]
rs4822913	1.00[AFR][1000 genomes]
rs4822916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4822920	1.00[AFR][1000 genomes]
rs55924866	1.00[AFR][1000 genomes]
rs5762258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723183	1.00[AFR][1000 genomes]
rs73160595	1.00[AFR][1000 genomes]
rs73162308	1.00[AFR][1000 genomes]

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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27967200-27971200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:27967200-27973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:27967800-27972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:27968600-27970600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:27969000-27970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:27969000-27970200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:27969000-27970600	Enhancers	Fetal Brain Male	brain
8	chr22:27969200-27970200	Enhancers	Fetal Intestine Small	intestine
9	chr22:27969200-27971000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr22:27969400-27970200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr22:27969400-27970200	Weak transcription	Fetal Kidney	kidney
12	chr22:27969400-27970400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:27969400-27971000	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:27969600-27970400	Enhancers	Fetal Lung	lung
15	chr22:27969600-27972200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:27969800-27970200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr22:27969800-27970200	Enhancers	Brain Germinal Matrix	brain
18	chr22:27969800-27980800	Enhancers	Fetal Stomach	stomach
19	chr22:27970000-27970200	Enhancers	Fetal Brain Female	brain
20	chr22:27970000-27970400	Enhancers	Fetal Thymus	thymus
21	chr22:27970000-27972200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:27970000-27972400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:27970000-27973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:27970000-27975800	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links