Variant report

Variant	rs2602777
Chromosome Location	chr2:30879524-30879525
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	chr2:30873034..30877433-chr2:30878993..30882629,5	MCF-7	breast:
2	chr2:30855476..30857973-chr2:30878238..30880495,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10180482	0.82[CHB][hapmap]
rs10495777	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes]
rs11127282	0.91[CEU][hapmap];0.80[CHB][hapmap]
rs12052260	0.91[CEU][hapmap];0.89[GIH][hapmap]
rs12052683	0.86[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap]
rs12053230	0.94[CHB][hapmap]
rs12613783	0.91[CEU][hapmap];0.82[CHB][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap]
rs12993664	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes]
rs13014459	0.83[AMR][1000 genomes]
rs13034406	1.00[CEU][hapmap]
rs1357850	0.82[CHB][hapmap]
rs1525063	0.86[CHB][hapmap]
rs17009938	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17038632	0.95[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs17322869	0.93[CEU][hapmap]
rs1869432	0.81[AMR][1000 genomes]
rs3816591	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4416262	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6548025	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6548026	0.82[AMR][1000 genomes]
rs6548027	0.88[ASN][1000 genomes]
rs6718730	0.85[CEU][hapmap]
rs72798200	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7565342	0.88[ASN][1000 genomes]
rs7583600	0.82[AMR][1000 genomes]
rs7583770	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7585111	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8179733	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs958580	0.91[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2602777	NRBP1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30863600-30882200	Weak transcription	Ovary	ovary
2	chr2:30876200-30879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:30876400-30879800	Enhancers	Fetal Muscle Leg	muscle
4	chr2:30876400-30879800	Enhancers	NHDF-Ad	bronchial
5	chr2:30876400-30880000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30877800-30879800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:30878400-30881200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:30879000-30884600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:30879200-30881000	Enhancers	HSMM	muscle
10	chr2:30879200-30883800	Weak transcription	Psoas Muscle	Psoas
11	chr2:30879200-30884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:30879200-30884600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:30879400-30879800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:30879400-30880000	Enhancers	HSMMtube	muscle
15	chr2:30879400-30884400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:30879400-30885400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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