Variant report

Variant	rs61229218
Chromosome Location	chr3:52826213-52826214
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	CTCF	chr3:52826120-52826270	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52818572..52822409-chr3:52823256..52828567,5	K562	blood:

Variant related genes	Relation type
ITIH3	TF binding region
ENSG00000055957	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1344932	0.83[AMR][1000 genomes]
rs17052424	0.83[AMR][1000 genomes]
rs17052427	0.83[AMR][1000 genomes]
rs2079928	0.83[AMR][1000 genomes]
rs57522359	0.83[AMR][1000 genomes]
rs57607481	0.83[AMR][1000 genomes]
rs57931767	0.83[AMR][1000 genomes]
rs58057636	0.83[AMR][1000 genomes]
rs59182119	0.83[AMR][1000 genomes]
rs60133283	0.83[AMR][1000 genomes]
rs60945641	0.83[AMR][1000 genomes]
rs6767229	0.83[AMR][1000 genomes]
rs6779626	0.83[AMR][1000 genomes]
rs6796577	0.83[AMR][1000 genomes]
rs6803865	0.83[AMR][1000 genomes]
rs72960298	0.83[AMR][1000 genomes]
rs7615320	0.83[AMR][1000 genomes]
rs7616059	0.83[AMR][1000 genomes]
rs7629493	0.83[AMR][1000 genomes]
rs7649820	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv1810629	chr3:52817031-52869635	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv876797	chr3:52817675-52873984	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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	chr3:52814800-52826400	Genic enhancers	Liver	Liver
2	chr3:52823600-52827000	Weak transcription	Spleen	Spleen
3	chr3:52824000-52832800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:52825400-52827800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:52826000-52826800	Enhancers	Fetal Intestine Small	intestine
7	chr3:52826000-52829000	Enhancers	Fetal Muscle Leg	muscle
8	chr3:52826200-52826400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:52826200-52826400	Weak transcription	Pancreas	Pancrea
10	chr3:52826200-52826600	Flanking Active TSS	HepG2	liver
11	chr3:52826200-52826800	Enhancers	Fetal Intestine Large	intestine
12	chr3:52826200-52827400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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