Variant report

Variant	rs2682853
Chromosome Location	chr2:187555996-187555997
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187553087..187557592-chr2:187558949..187563450,5	K562	blood:
2	chr2:187551282..187557363-chr2:187557813..187561684,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227227	Chromatin interaction
ENSG00000144369	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1375447	0.81[AMR][1000 genomes]
rs1449088	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1449090	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1449091	0.81[AMR][1000 genomes]
rs1470602	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16828108	1.00[EUR][1000 genomes]
rs16828136	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839122	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2167013	0.81[AMR][1000 genomes]
rs2247924	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2442316	0.81[AMR][1000 genomes]
rs2442318	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2594698	0.82[ASN][1000 genomes]
rs2594702	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2594703	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2594704	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2595377	0.81[AMR][1000 genomes]
rs2595379	0.81[AMR][1000 genomes]
rs2682852	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2682854	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682858	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2682859	0.81[AMR][1000 genomes]
rs2682860	0.81[AMR][1000 genomes]
rs2682861	0.81[AMR][1000 genomes]
rs2682866	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682869	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682870	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682872	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682874	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3738918	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7556971	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976693	0.81[AMR][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187539200-187557800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:187541800-187558400	Weak transcription	Left Ventricle	heart
3	chr2:187543400-187558200	Weak transcription	NHDF-Ad	bronchial
4	chr2:187543600-187558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187546200-187558200	Weak transcription	Placenta	Placenta
6	chr2:187546800-187558000	Weak transcription	A549	lung
7	chr2:187554400-187558400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:187555800-187556200	Enhancers	NH-A	brain

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