Variant report

Variant	rs2592462
Chromosome Location	chr2:114234425-114234426
allele	A/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	FOXA2	chr2:114234314-114235013	A549	lung:	n/a	n/a
2	POLR2A	chr2:114234415-114235387	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CBWD2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10170810	0.81[AMR][1000 genomes]
rs1191629	0.81[AMR][1000 genomes]
rs1210133	0.82[AMR][1000 genomes]
rs2475450	0.83[AMR][1000 genomes]
rs7566223	0.83[AMR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114196200-114238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:114196200-114242200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:114196200-114255400	Weak transcription	Adipose Nuclei	Adipose
4	chr2:114196600-114234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:114196600-114235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:114196600-114241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:114196600-114247000	Weak transcription	Liver	Liver
8	chr2:114202800-114256400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:114220200-114252600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:114220200-114256200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:114221600-114253800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:114230600-114235800	Weak transcription	Lung	lung
13	chr2:114233000-114236400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:114234000-114257800	Weak transcription	Primary T cells from cord blood	blood
15	chr2:114234200-114234600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:114234200-114234600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:114234200-114234600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr2:114234200-114234600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:114234200-114234600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:114234200-114234600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:114234400-114234600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:114234400-114234600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:114234400-114234600	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links