Variant report

Variant	rs2710338
Chromosome Location	chr3:52836340-52836341
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	POLR2A	chr3:52836062-52836813	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:52831117..52833454-chr3:52835406..52839409,3	K562	blood:
2	chr3:52827519..52829330-chr3:52834424..52837850,3	MCF-7	breast:
3	chr3:52834279..52837211-chr3:52858122..52860407,2	K562	blood:

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

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13322530	0.92[ASN][1000 genomes]
rs2276811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2276813	0.92[ASN][1000 genomes]
rs2710333	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]
rs2710334	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]
rs2710335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2710337	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	0.92[ASN][1000 genomes]
rs3774357	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs3815421	0.92[ASN][1000 genomes]
rs4234637	1.00[CHB][hapmap]
rs55888310	0.92[ASN][1000 genomes]
rs58014366	0.92[ASN][1000 genomes]
rs60309163	0.83[ASN][1000 genomes]
rs72954395	0.92[ASN][1000 genomes]
rs72954399	0.92[ASN][1000 genomes]
rs72956104	0.92[ASN][1000 genomes]
rs9311481	0.92[ASN][1000 genomes]
rs9311482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs9831540	0.92[ASN][1000 genomes]
rs9842048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs9861870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs9861958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[ASN][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52830400-52836400	Weak transcription	Pancreas	Pancrea
2	chr3:52833000-52836400	Weak transcription	HSMM	muscle
3	chr3:52834000-52838000	Weak transcription	Fetal Thymus	thymus
4	chr3:52834000-52841600	Strong transcription	HepG2	liver
5	chr3:52834200-52839800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:52834600-52836400	Weak transcription	Spleen	Spleen
7	chr3:52835000-52843800	Strong transcription	Liver	Liver
8	chr3:52835600-52836800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:52835800-52836400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:52835800-52836400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:52835800-52836600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:52835800-52836800	Enhancers	HSMMtube	muscle
13	chr3:52835800-52837200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:52836000-52836600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:52836200-52836400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:52836200-52836400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:52836200-52836600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:52836200-52836800	Enhancers	Placenta	Placenta
19	chr3:52836200-52837000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:52836200-52837200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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