Variant report

Variant	rs731323
Chromosome Location	chr2:114063253-114063254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1446247	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3860398	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849197	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60431472	0.98[ASN][1000 genomes]
rs60724372	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 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	chr2:114058200-114067200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114060800-114065400	Weak transcription	Gastric	stomach
3	chr2:114061200-114064200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:114061800-114063800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:114062000-114063400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:114062200-114063400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:114062200-114064800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:114062400-114063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:114062400-114063400	Enhancers	HMEC	breast
10	chr2:114062400-114063400	Enhancers	NHEK	skin
11	chr2:114062400-114063800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:114062400-114064600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:114062800-114063800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:114062800-114067000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:114063000-114063400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:114063000-114063600	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr2:114063000-114066000	Weak transcription	HSMMtube	muscle
18	chr2:114063000-114067200	Weak transcription	Esophagus	oesophagus
19	chr2:114063200-114064800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:114063200-114064800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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