Variant report

Variant	rs41295778
Chromosome Location	chr3:133477600-133477601
allele	G/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	chr3:133470213-133490385	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:133477540-133477672	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:133471573-133479086	HepG2	liver:	n/a	n/a
4	POLR2A	chr3:133477393-133478670	HepG2	liver:	n/a	n/a
5	MBD4	chr3:133477352-133477689	HepG2	liver:	n/a	n/a
6	HEY1	chr3:133470261-133482084	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:133471516-133487597	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:133464423-133479250	HepG2	liver:	n/a	n/a
9	POLR2A	chr3:133476761-133478522	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:133470633-133487808	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:133475218..133478981-chr3:133481312..133484055,3	K562	blood:

Variant related genes	Relation type
ENSG00000244062	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3860500	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6778545	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6806081	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7620678	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177220	0.88[ASN][1000 genomes]
rs8177321	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877506	chr3:133423473-133569777	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv933605	chr3:133425907-133680641	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv829729	chr3:133444871-133620387	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv877508	chr3:133476852-133482662	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133465600-133483000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:133471600-133477600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:133472400-133480600	Strong transcription	Brain Angular Gyrus	brain
4	chr3:133473400-133480800	Strong transcription	Brain Inferior Temporal Lobe	brain
5	chr3:133473800-133478200	Strong transcription	Liver	Liver
6	chr3:133474000-133480200	Strong transcription	Brain Hippocampus Middle	brain
7	chr3:133475000-133487000	Weak transcription	Fetal Brain Male	brain
8	chr3:133475200-133480800	Strong transcription	HepG2	liver
9	chr3:133475200-133482800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:133476200-133477800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:133476200-133478600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:133476400-133478400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:133476800-133478200	Strong transcription	Brain Substantia Nigra	brain
14	chr3:133476800-133478800	Strong transcription	Adipose Nuclei	Adipose
15	chr3:133477000-133478000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:133477000-133478800	Strong transcription	Brain Cingulate Gyrus	brain
17	chr3:133477000-133490400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:133477200-133478400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:133477200-133480400	Strong transcription	Brain Anterior Caudate	brain
20	chr3:133477400-133477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:133477600-133478200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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