Variant report

Variant	rs6048283
Chromosome Location	chr20:22701120-22701121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1072709	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1072710	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12480993	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12481000	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12481542	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13036763	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13037107	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13037452	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13037517	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13037649	0.86[ASN][1000 genomes]
rs13037670	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13038194	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13040066	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13043823	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983920	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983921	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983922	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983923	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983924	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2404489	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6036200	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6036203	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6036204	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6048280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048291	0.82[EUR][1000 genomes]
rs6048298	0.82[EUR][1000 genomes]
rs6048300	0.83[CEU][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs6048326	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048331	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6048332	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6106548	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6113789	0.81[EUR][1000 genomes]
rs62203753	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71212785	0.84[ASN][1000 genomes]
rs7262725	0.83[TSI][hapmap]
rs7264150	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7265809	0.84[ASN][1000 genomes]
rs7265907	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7266066	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7270014	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7270374	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs745661	0.87[TSI][hapmap]
rs8114980	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8117748	0.87[TSI][hapmap]
rs8119621	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8125753	0.85[TSI][hapmap]
rs965762	0.85[ASN][1000 genomes]
rs996070	0.87[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6048283	GGTLC1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22698400-22704000	Weak transcription	HSMMtube	muscle
2	chr20:22698400-22705800	Weak transcription	Right Atrium	heart
3	chr20:22698800-22708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr20:22699600-22701600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:22699800-22703400	Weak transcription	Lung	lung
6	chr20:22699800-22703600	Weak transcription	Left Ventricle	heart
7	chr20:22700200-22703400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr20:22700200-22703400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:22700200-22703400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr20:22700200-22703600	Weak transcription	Spleen	Spleen
11	chr20:22700200-22705800	Weak transcription	A549	lung
12	chr20:22700600-22703600	Weak transcription	Fetal Muscle Leg	muscle
13	chr20:22700600-22703800	Weak transcription	Stomach Mucosa	stomach
14	chr20:22700600-22705800	Weak transcription	Hela-S3	cervix

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