Variant report

Variant	rs4972366
Chromosome Location	chr2:148595506-148595507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148594776..148598351-chr2:148600056..148602491,3	K562	blood:
2	chr2:148568641..148571230-chr2:148594216..148595772,2	MCF-7	breast:
3	chr2:148588549..148591350-chr2:148595226..148596870,2	K562	blood:
4	chr2:148594776..148599311-chr2:148600451..148604588,8	K562	blood:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10187392	1.00[EUR][1000 genomes]
rs10928370	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1227305	0.88[YRI][hapmap]
rs12620026	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs13022827	1.00[CEU][hapmap]
rs13394568	1.00[EUR][1000 genomes]
rs13411618	1.00[EUR][1000 genomes]
rs1364659	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1469212	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16828024	1.00[EUR][1000 genomes]
rs16828025	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16828096	1.00[EUR][1000 genomes]
rs16828177	1.00[EUR][1000 genomes]
rs16828185	1.00[EUR][1000 genomes]
rs17218917	1.00[EUR][1000 genomes]
rs2081400	1.00[MEX][hapmap]
rs2627023	1.00[EUR][1000 genomes]
rs2627027	1.00[EUR][1000 genomes]
rs2627033	1.00[MEX][hapmap]
rs2707220	1.00[EUR][1000 genomes]
rs41468049	1.00[EUR][1000 genomes]
rs4972314	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs58341690	1.00[EUR][1000 genomes]
rs7578992	1.00[EUR][1000 genomes]
rs7581537	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148595200-148595600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr2:148595200-148595800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:148595200-148596000	Enhancers	Primary monocytes fromperipheralblood	blood

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