Variant report

Variant	rs11590226
Chromosome Location	chr1:226203053-226203054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226193958..226196846-chr1:226201490..226204500,3	K562	blood:
2	chr1:226201529..226203979-chr1:226206128..226208883,3	K562	blood:
3	chr1:226200556..226204840-chr1:226247964..226254138,7	K562	blood:

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11586667	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11808474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11809941	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16845468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1885254	0.91[MEX][hapmap];0.84[TSI][hapmap]
rs1998273	0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs2755094	1.00[MEX][hapmap]
rs2755097	0.84[MEX][hapmap]
rs2816323	0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs2816324	0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs2816326	0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs3795442	0.86[JPT][hapmap]
rs66514719	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66791434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6681666	0.86[JPT][hapmap]
rs66934363	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67269884	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67523369	0.90[EUR][1000 genomes]
rs73100512	0.90[EUR][1000 genomes]
rs73100535	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7554619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11590226	CNIH4	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226192400-226204400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:226201600-226203200	Enhancers	K562	blood
3	chr1:226201600-226203400	Enhancers	Spleen	Spleen
4	chr1:226202000-226203600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:226202200-226203200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:226202200-226203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:226202200-226203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:226202200-226203200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:226202200-226204400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:226202800-226203400	Enhancers	Primary neutrophils fromperipheralblood	blood

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