Variant report

Variant	rs4848330
Chromosome Location	chr2:114064263-114064264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10201645	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10209795	0.87[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11123174	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11123175	0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11679928	0.83[AMR][1000 genomes]
rs11683025	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11687706	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11688620	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11889663	0.82[AMR][1000 genomes]
rs12467534	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12989922	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13002606	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13022812	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13385108	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13388160	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17626470	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4091938	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4848324	0.82[AMR][1000 genomes]
rs4848325	0.83[AMR][1000 genomes]
rs4848326	0.83[AMR][1000 genomes]
rs4848327	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4848328	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4848329	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4849191	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4849192	0.82[AMR][1000 genomes]
rs4849194	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6753679	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6760462	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6760648	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7587376	0.80[EUR][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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4848330	AC016683.6	cis	lung	GTEx
rs4848330	AC016683.6	cis	Artery Tibial	GTEx
rs4848330	LOC654433	cis	parietal	SCAN
rs4848330	AC016683.6	cis	Esophagus Mucosa	GTEx
rs4848330	AC016683.6	cis	Muscle Skeletal	GTEx
rs4848330	PAX8	cis	Esophagus Muscularis	GTEx
rs4848330	AC016683.6	cis	Nerve Tibial	GTEx
rs4848330	AC016683.6	cis	Whole Blood	GTEx
rs4848330	LOC654433	cis	cerebellum	SCAN
rs4848330	PAX8	cis	Artery Tibial	GTEx
rs4848330	PAX8	cis	multi-tissue	Pritchard
rs4848330	PAX8	cis	lung	GTEx
rs4848330	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs4848330	LOC654433	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 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	chr2:114062200-114064800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:114062400-114064600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:114062800-114067000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:114063000-114066000	Weak transcription	HSMMtube	muscle
7	chr2:114063000-114067200	Weak transcription	Esophagus	oesophagus
8	chr2:114063200-114064800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:114063200-114064800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:114063400-114064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:114063400-114066000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:114063400-114066200	Weak transcription	HMEC	breast
13	chr2:114063400-114066200	Weak transcription	NHEK	skin
14	chr2:114063400-114066400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:114063800-114066200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:114063800-114067000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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