Variant report

Variant	rs4549635
Chromosome Location	chr6:131063500-131063501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131062388..131064947-chr6:131067740..131069514,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10456989	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10456991	1.00[ASN][1000 genomes]
rs10457558	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190916	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192664	1.00[ASN][1000 genomes]
rs12197236	1.00[ASN][1000 genomes]
rs12200243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200889	1.00[ASN][1000 genomes]
rs12207323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207401	1.00[ASN][1000 genomes]
rs12207735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210483	1.00[ASN][1000 genomes]
rs12212907	1.00[ASN][1000 genomes]
rs12214117	1.00[ASN][1000 genomes]
rs13205393	1.00[ASN][1000 genomes]
rs13219477	1.00[ASN][1000 genomes]
rs1396249	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603657	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059473	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829411	0.80[CEU][hapmap];0.90[MEX][hapmap]
rs2221651	0.89[EUR][1000 genomes]
rs28580091	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34043716	1.00[ASN][1000 genomes]
rs34157430	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34261251	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569700	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6906238	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912992	1.00[CEU][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937306	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940545	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71572935	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71572945	1.00[ASN][1000 genomes]
rs9483175	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4549635	MRPL30	trans	cerebellum	SCAN
rs4549635	ECHDC1	cis	cerebellum	SCAN
rs4549635	KIAA1913	cis	multi-tissue	Pritchard
rs4549635	MOXD1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131059000-131065800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:131063000-131063600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:131063000-131063600	Enhancers	HSMMtube	muscle
4	chr6:131063000-131063800	Enhancers	NHDF-Ad	bronchial
5	chr6:131063200-131063600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:131063200-131064000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:131063400-131063600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:131063400-131063600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:131063400-131063600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:131063400-131063800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:131063400-131063800	Enhancers	NH-A	brain
12	chr6:131063400-131064000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:131063400-131064000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:131063400-131064800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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