Variant report

Variant	rs12635534
Chromosome Location	chr3:142859183-142859184
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142850270..142855258-chr3:142857254..142859835,5	K562	blood:
2	chr3:142841738..142844491-chr3:142857167..142859995,2	K562	blood:

Variant related genes	Relation type
ENSG00000241679	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1056360	0.89[ASN][1000 genomes]
rs1134685	0.89[ASN][1000 genomes]
rs11710763	0.92[ASN][1000 genomes]
rs16853045	0.93[ASN][1000 genomes]
rs1900994	0.93[ASN][1000 genomes]
rs1900995	0.93[ASN][1000 genomes]
rs4683454	0.93[ASN][1000 genomes]
rs4683455	0.93[ASN][1000 genomes]
rs4683743	0.93[ASN][1000 genomes]
rs4683744	0.93[ASN][1000 genomes]
rs4683745	0.90[ASN][1000 genomes]
rs4683746	0.93[ASN][1000 genomes]
rs4683747	0.93[ASN][1000 genomes]
rs6440142	0.93[ASN][1000 genomes]
rs66726727	0.92[ASN][1000 genomes]
rs67496487	0.92[ASN][1000 genomes]
rs67627912	0.92[ASN][1000 genomes]
rs6780752	0.81[ASN][1000 genomes]
rs6789472	0.93[ASN][1000 genomes]
rs6805732	0.93[ASN][1000 genomes]
rs68171708	0.93[ASN][1000 genomes]
rs726737	0.93[ASN][1000 genomes]
rs73159623	0.92[ASN][1000 genomes]
rs735564	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142853400-142870600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:142853600-142873000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:142854800-142865800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:142856600-142859600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:142857800-142859200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:142857800-142859200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:142858200-142859400	Enhancers	HUVEC	blood vessel
8	chr3:142858200-142864400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:142858400-142859200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:142858400-142859200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:142858400-142859400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:142858400-142860000	Enhancers	K562	blood
13	chr3:142858600-142859200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:142858600-142859200	Active TSS	A549	lung
15	chr3:142858600-142859200	Enhancers	NHEK	skin
16	chr3:142858800-142859200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:142859000-142859200	Enhancers	Fetal Lung	lung
18	chr3:142859000-142859200	Flanking Active TSS	Hela-S3	cervix
19	chr3:142859000-142859400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:142859000-142859600	Weak transcription	Left Ventricle	heart

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