Variant report

Variant	rs60133283
Chromosome Location	chr3:52816572-52816573
allele	A/C
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	REST	chr3:52816529-52816751	H1-hESC	embryonic stem cell:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
2	REST	chr3:52816397-52816904	ECC-1	luminal epithelium:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
3	REST	chr3:52816544-52816778	Hela-S3	cervix:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
4	REST	chr3:52816481-52816875	ECC-1	luminal epithelium:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
5	REST	chr3:52816381-52816718	PFSK-1	brain:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
6	REST	chr3:52816429-52816831	PFSK-1	brain:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
7	REST	chr3:52816484-52816774	H1-hESC	embryonic stem cell:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672
8	REST	chr3:52816559-52816737	K562	blood:	n/a	chr3:52816657-52816666 chr3:52816653-52816671 chr3:52816655-52816668 chr3:52816707-52816717 chr3:52816652-52816672

Variant related genes	Relation type
ITIH1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1344932	1.00[AMR][1000 genomes]
rs17052424	1.00[AMR][1000 genomes]
rs17052427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2079928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57522359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57607481	1.00[AMR][1000 genomes]
rs57789542	0.85[AFR][1000 genomes]
rs57931767	1.00[AMR][1000 genomes]
rs58057636	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59182119	1.00[AMR][1000 genomes]
rs60945641	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61229218	0.83[AMR][1000 genomes]
rs6767229	1.00[AMR][1000 genomes]
rs6779626	1.00[AMR][1000 genomes]
rs6796577	1.00[AMR][1000 genomes]
rs6803865	1.00[AMR][1000 genomes]
rs72960298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7615320	1.00[AMR][1000 genomes]
rs7616059	1.00[AMR][1000 genomes]
rs7649820	1.00[AMR][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	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv834698	chr3:52749983-52928219	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1010761	chr3:52804547-52851258	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52805600-52825800	Weak transcription	Right Ventricle	heart
2	chr3:52810200-52816600	Enhancers	HepG2	liver
3	chr3:52814800-52826400	Genic enhancers	Liver	Liver
4	chr3:52815800-52816600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr3:52816000-52816600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr3:52816200-52816600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr3:52816200-52816600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr3:52816200-52816600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:52816200-52819000	Weak transcription	Spleen	Spleen
10	chr3:52816400-52816600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:52816400-52818600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:52816400-52825800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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