Variant report

Variant	rs9829651
Chromosome Location	chr3:142849107-142849108
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	POLR2A	chr3:142847840-142849140	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:142848479-142849357	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142847512..142849517-chr3:142856776..142858672,2	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	0.86[ASN][1000 genomes]
rs11719768	0.82[ASN][1000 genomes]
rs1597389	0.86[ASN][1000 genomes]
rs4683450	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4683451	0.82[ASN][1000 genomes]
rs4683452	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683741	0.86[ASN][1000 genomes]
rs4683748	0.86[ASN][1000 genomes]
rs6440136	0.91[ASN][1000 genomes]
rs6440137	0.84[ASN][1000 genomes]
rs6440141	0.86[ASN][1000 genomes]
rs6780752	0.92[CEU][hapmap];0.95[GIH][hapmap];0.96[TSI][hapmap];0.95[EUR][1000 genomes]
rs6801537	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6801610	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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:27 , 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	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
5	chr3:142844000-142853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:142844200-142853400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:142844400-142849800	Weak transcription	Fetal Brain Female	brain
8	chr3:142844600-142853000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:142844600-142853200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:142844800-142852600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr3:142844800-142858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:142845800-142849400	Weak transcription	Fetal Kidney	kidney
13	chr3:142845800-142858200	Weak transcription	Fetal Brain Male	brain
14	chr3:142846800-142852400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:142847000-142852000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:142847200-142849600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:142847200-142850000	Genic enhancers	Fetal Lung	lung
18	chr3:142847200-142852600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:142847200-142853400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:142847400-142853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:142848200-142850800	Weak transcription	GM12878-XiMat	blood
22	chr3:142848200-142851800	Weak transcription	K562	blood
23	chr3:142848200-142853200	Weak transcription	NHLF	lung
24	chr3:142848400-142850800	Weak transcription	Fetal Thymus	thymus
25	chr3:142848600-142849200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:142848600-142851600	Strong transcription	Primary T cells from cord blood	blood
27	chr3:142848800-142851200	Strong transcription	Dnd41	blood

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