Variant report

Variant	rs62300078
Chromosome Location	chr4:47467167-47467168
allele	C/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	TAL1	chr4:47467122-47467266	K562	blood:	n/a	n/a
2	SRF	chr4:47467124-47467483	ECC-1	luminal epithelium:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
3	SPI1	chr4:47467105-47467304	GM12878	blood:	n/a	chr4:47467220-47467229
4	PAX5	chr4:47467067-47467368	GM12878	blood:	n/a	chr4:47467220-47467229
5	PAX5	chr4:47467005-47467391	GM12878	blood:	n/a	chr4:47467220-47467229
6	SRF	chr4:47467167-47467359	HepG2	liver:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
7	SPI1	chr4:47466993-47467491	HL-60	blood:	n/a	chr4:47467220-47467229
8	PAX5	chr4:47467008-47467496	GM12878	blood:	n/a	chr4:47467220-47467229
9	CREB1	chr4:47466986-47467505	GM12878	blood:	n/a	n/a
10	EP300	chr4:47467064-47467496	GM12878	blood:	n/a	chr4:47467276-47467283
11	PAX5	chr4:47467060-47467418	GM12892	blood:	n/a	chr4:47467220-47467229
12	CEBPB	chr4:47467023-47467308	Hela-S3	cervix:	n/a	chr4:47467233-47467250
13	RCOR1	chr4:47467118-47467605	GM12878	blood:	n/a	n/a
14	SPI1	chr4:47466975-47467306	HL-60	blood:	n/a	chr4:47467220-47467229
15	SPI1	chr4:47467045-47467348	GM12891	blood:	n/a	chr4:47467220-47467229
16	SRF	chr4:47467108-47467384	GM12878	blood:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
17	SRF	chr4:47467111-47467405	GM12878	blood:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
18	SRF	chr4:47467108-47467390	GM12878	blood:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
19	SRF	chr4:47467026-47467389	GM12878	blood:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
20	SPI1	chr4:47467060-47467359	GM12891	blood:	n/a	chr4:47467220-47467229
21	NFIC	chr4:47466961-47467481	GM12878	blood:	n/a	n/a
22	SPI1	chr4:47466982-47467360	GM12878	blood:	n/a	chr4:47467220-47467229
23	EP300	chr4:47467049-47467459	GM12878	blood:	n/a	chr4:47467276-47467283
24	ATF2	chr4:47466935-47467507	GM12878	blood:	n/a	n/a
25	REST	chr4:47467128-47467327	Hela-S3	cervix:	n/a	n/a
26	PAX5	chr4:47467041-47467420	GM12891	blood:	n/a	chr4:47467220-47467229
27	SPI1	chr4:47466730-47467396	GM12878	blood:	n/a	chr4:47467220-47467229
28	CREB1	chr4:47466929-47467815	GM12878	blood:	n/a	n/a
29	RUNX3	chr4:47466966-47467449	GM12878	blood:	n/a	n/a
30	PAX5	chr4:47467080-47467361	GM12878	blood:	n/a	chr4:47467220-47467229

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47465829..47468286-chr4:47470252..47472768,2	K562	blood:

Variant related genes	Relation type
COMMD8	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10016916	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10017560	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028945	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10470771	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934717	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940241	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12510975	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13434696	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16860198	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4130363	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403019	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635794	0.81[EUR][1000 genomes]
rs62297852	0.91[ASN][1000 genomes]
rs62297855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297856	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297858	0.94[ASN][1000 genomes]
rs62300077	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234555	0.94[ASN][1000 genomes]
rs73234578	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234586	0.88[ASN][1000 genomes]
rs73234587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436716	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672333	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678771	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679148	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7693987	0.81[EUR][1000 genomes]
rs9998407	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47465800-47468000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:47466000-47473200	Weak transcription	Placenta	Placenta
3	chr4:47466000-47475400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:47466200-47467200	Weak transcription	Fetal Kidney	kidney
5	chr4:47466200-47467800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr4:47466200-47467800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr4:47466200-47468000	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:47466200-47470400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:47466200-47470400	Weak transcription	Osteobl	bone
10	chr4:47466200-47470800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:47466200-47470800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:47466200-47470800	Weak transcription	Fetal Lung	lung
13	chr4:47466200-47470800	Weak transcription	NH-A	brain
14	chr4:47466200-47471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:47466200-47471000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:47466200-47471600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:47466200-47473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:47466400-47470800	Weak transcription	Fetal Heart	heart
19	chr4:47466600-47468800	Enhancers	GM12878-XiMat	blood

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