Variant report

Variant	rs2592460
Chromosome Location	chr2:114228904-114228905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1191629	0.91[ASN][1000 genomes]
rs1210133	0.93[ASN][1000 genomes]
rs2441606	0.85[ASN][1000 genomes]
rs2441607	0.85[ASN][1000 genomes]
rs2475450	0.86[ASN][1000 genomes]
rs72611929	0.87[ASN][1000 genomes]
rs72611930	0.86[ASN][1000 genomes]
rs7566223	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1002255	chr2:114120037-114236620	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv18442	chr2:114167656-114267309	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1802875	chr2:114167899-114317895	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv10130	chr2:114171428-114254459	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv834334	chr2:114175740-114338827	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv874902	chr2:114179202-114300577	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv961492	chr2:114192364-114236951	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv874903	chr2:114207677-114291917	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv1818464	chr2:114220055-114253803	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
12	esv1834304	chr2:114220055-114253803	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
13	esv1797201	chr2:114220055-114256039	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
14	nsv961998	chr2:114228793-114239746	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114196200-114230800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:114196200-114234000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:114196200-114238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:114196200-114242200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:114196200-114255400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:114196600-114234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:114196600-114235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:114196600-114241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:114196600-114247000	Weak transcription	Liver	Liver
10	chr2:114202800-114256400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:114203000-114229800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:114203000-114230200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:114204600-114230400	Weak transcription	Dnd41	blood
14	chr2:114204600-114234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:114220200-114252600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:114220200-114256200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:114220600-114234200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:114221600-114253800	Weak transcription	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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