Variant report

Variant	rs2710333
Chromosome Location	chr3:52834753-52834754
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	chr3:52834565-52834764	HepG2	liver:	n/a	n/a
2	ZNF263	chr3:52834301-52834810	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52827101..52830669-chr3:52833208..52834941,3	K562	blood:
2	chr3:52817973..52820437-chr3:52833631..52835650,3	K562	blood:
3	chr3:52831758..52833558-chr3:52833637..52835171,2	K562	blood:
4	chr3:52827519..52829330-chr3:52834424..52837850,3	MCF-7	breast:
5	chr3:52834279..52837211-chr3:52858122..52860407,2	K562	blood:

Variant related genes	Relation type
ITIH3	TF binding region
ENSG00000055957	Chromatin interaction
ENSG00000055955	Chromatin interaction
ENSG00000162267	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13322530	1.00[ASN][1000 genomes]
rs2001734	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2256734	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2276811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2276813	1.00[ASN][1000 genomes]
rs2276820	1.00[CHD][hapmap]
rs2276821	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2276822	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2336155	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2336559	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2535619	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2535632	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2535637	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2710318	0.84[YRI][hapmap]
rs2710324	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs2710334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2710337	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710338	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28463071	1.00[ASN][1000 genomes]
rs2878633	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs3774357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3815421	1.00[ASN][1000 genomes]
rs4234637	1.00[CHB][hapmap]
rs4687665	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs55888310	1.00[ASN][1000 genomes]
rs58014366	1.00[ASN][1000 genomes]
rs60309163	0.91[ASN][1000 genomes]
rs6445542	0.88[ASW][hapmap]
rs6774869	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs72954395	1.00[ASN][1000 genomes]
rs72954399	1.00[ASN][1000 genomes]
rs72956104	1.00[ASN][1000 genomes]
rs9311481	1.00[ASN][1000 genomes]
rs9311482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs9681089	0.88[ASW][hapmap];1.00[CHD][hapmap]
rs9831540	1.00[ASN][1000 genomes]
rs9842048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.91[ASN][1000 genomes]
rs9861870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs9861958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	esv3452194	chr3:52832512-52836010	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52825800-52836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:52828200-52835800	Weak transcription	HSMMtube	muscle
3	chr3:52830400-52836400	Weak transcription	Pancreas	Pancrea
4	chr3:52830800-52835000	Genic enhancers	Liver	Liver
5	chr3:52833000-52836200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:52833000-52836400	Weak transcription	HSMM	muscle
7	chr3:52833200-52835600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:52833600-52834800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:52833600-52835800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:52834000-52834800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:52834000-52838000	Weak transcription	Fetal Thymus	thymus
12	chr3:52834000-52841600	Strong transcription	HepG2	liver
13	chr3:52834200-52839800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:52834600-52836400	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links