Variant report

Variant	rs4683450
Chromosome Location	chr3:142847435-142847436
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	POLR2A	chr3:142847089-142847617	GM12891	blood:	n/a	n/a
2	SPI1	chr3:142847419-142847708	GM12878	blood:	n/a	chr3:142847589-142847598
3	SPI1	chr3:142847392-142847741	GM12891	blood:	n/a	chr3:142847589-142847598
4	SPI1	chr3:142847342-142847737	GM12891	blood:	n/a	chr3:142847589-142847598
5	POLR2A	chr3:142843371-142847565	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142821256..142825372-chr3:142845694..142848578,3	K562	blood:
2	chr3:142821256..142824005-chr3:142845694..142847752,2	K562	blood:

Variant related genes	Relation type
ENSG00000241679	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10084718	0.89[ASN][1000 genomes]
rs11719768	0.85[ASN][1000 genomes]
rs1597389	0.89[ASN][1000 genomes]
rs4683451	0.87[ASN][1000 genomes]
rs4683452	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683741	0.89[ASN][1000 genomes]
rs4683748	0.89[ASN][1000 genomes]
rs6440136	0.84[ASN][1000 genomes]
rs6440137	0.87[ASN][1000 genomes]
rs6440141	0.89[ASN][1000 genomes]
rs6780752	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6801537	0.90[ASN][1000 genomes]
rs6801610	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9829651	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription 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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
6	chr3:142844000-142848600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:142844000-142853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:142844200-142853400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:142844400-142847800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:142844400-142849800	Weak transcription	Fetal Brain Female	brain
11	chr3:142844600-142853000	Weak transcription	Primary B cells from cord blood	blood
12	chr3:142844600-142853200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:142844800-142847800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:142844800-142852600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:142844800-142858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:142845600-142848200	Enhancers	K562	blood
17	chr3:142845800-142849400	Weak transcription	Fetal Kidney	kidney
18	chr3:142845800-142858200	Weak transcription	Fetal Brain Male	brain
19	chr3:142846400-142847600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:142846600-142848400	Strong transcription	Fetal Thymus	thymus
21	chr3:142846800-142852400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:142847000-142848000	Strong transcription	Dnd41	blood
23	chr3:142847000-142848600	Genic enhancers	Primary T cells from cord blood	blood
24	chr3:142847000-142852000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:142847200-142849600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:142847200-142850000	Genic enhancers	Fetal Lung	lung
27	chr3:142847200-142852600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:142847200-142853400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:142847400-142848200	Enhancers	GM12878-XiMat	blood
30	chr3:142847400-142848200	Enhancers	NHLF	lung
31	chr3:142847400-142853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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