Variant report

Variant	rs997148
Chromosome Location	chr1:239757346-239757347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10127769	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754673	0.90[EUR][1000 genomes]
rs10754674	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754675	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10802776	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10802777	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10802778	0.94[ASN][1000 genomes]
rs10802779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10802780	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10925916	0.90[EUR][1000 genomes]
rs10925918	0.90[ASN][1000 genomes]
rs10925920	0.97[ASN][1000 genomes]
rs10925921	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10925924	0.83[ASN][1000 genomes]
rs10925926	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12089818	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118974	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12123624	0.88[EUR][1000 genomes]
rs12402224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416378	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416379	0.88[EUR][1000 genomes]
rs1538442	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1867262	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4376722	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4507997	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4659547	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4659920	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670526	0.92[EUR][1000 genomes]
rs6670728	0.92[EUR][1000 genomes]
rs7526165	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs997538	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv873352	chr1:239755406-239798412	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239728800-239769400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:239744000-239761400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:239746600-239757600	Weak transcription	Pancreas	Pancrea
4	chr1:239751000-239761200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:239754800-239757400	Weak transcription	Ovary	ovary
6	chr1:239755400-239761400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:239757000-239757800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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