Variant report

Variant	rs4272630
Chromosome Location	chr1:220486349-220486350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10495146	0.89[MKK][hapmap]
rs12568631	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1397959	0.82[MKK][hapmap]
rs1397960	0.89[MKK][hapmap]
rs17007514	0.84[ASN][1000 genomes]
rs2048479	0.89[MKK][hapmap]
rs2667965	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4846310	0.92[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4846314	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4846626	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6683491	0.89[MKK][hapmap]
rs6702901	1.00[ASN][1000 genomes]
rs7516304	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7524270	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7532002	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7534648	0.83[EUR][1000 genomes]
rs7545196	0.87[MKK][hapmap]
rs907416	0.81[MKK][hapmap]

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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv523114	chr1:220486349-220500958	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4272630	COL4A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220486000-220486600	Enhancers	Fetal Lung	lung
2	chr1:220486200-220488600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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