Variant report

Variant	rs2126126
Chromosome Location	chr1:173653854-173653855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs35515638	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56660187	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520670	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58356308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60228238	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60656154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61628721	1.00[AMR][1000 genomes]
rs6425259	0.92[YRI][hapmap]
rs6425260	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs6663103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73023587	1.00[AMR][1000 genomes]
rs73023590	1.00[AMR][1000 genomes]
rs73025450	1.00[AMR][1000 genomes]
rs73025453	1.00[AMR][1000 genomes]
rs73031308	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73033137	0.84[AFR][1000 genomes]
rs73033138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035115	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035123	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035130	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035157	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035162	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037030	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037052	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037062	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516013	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534260	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534982	0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537349	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542542	0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542780	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv1014827	chr1:173653453-173692470	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173639000-173657200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:173645800-173654600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:173650000-173654600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:173651800-173657400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:173652400-173654800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:173652600-173654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:173652600-173654600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:173652600-173654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:173652800-173656800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:173653400-173654600	Weak transcription	K562	blood
11	chr1:173653800-173654000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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