Variant report

Variant	rs682848
Chromosome Location	chr11:64200379-64200380
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64197362..64199430-chr11:64200195..64202972,2	MCF-7	breast:
2	11:64197420-64206402..11:64501239-64517861	GM12878	blood:
3	11:64197420-64206402..11:64402707-64415880	H1-hESC	embryonic stem cell:	embryo
4	11:64197420-64206402..11:64489786-64499245	GM12878	blood:
5	chr11:64199979..64202076-chr11:64202502..64205332,2	MCF-7	breast:
6	11:64197420-64206402..11:64415880-64426617	Hela-S3	cervix:
7	11:64197420-64206402..11:64523887-64530985	Hela-S3	cervix:
8	11:64197420-64206402..11:64356433-64395036	K562	blood:
9	chr11:64200040..64202027-chr11:64300129..64302413,2	K562	blood:
10	11:64197420-64206402..11:64426650-64437729	K562	blood:
11	chr11:64200342..64202053-chr11:64206735..64208236,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237410	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000197891	Chromatin interaction
ENSG00000068976	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10792433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10897490	0.80[AMR][1000 genomes]
rs10897494	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10897495	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10897496	0.84[AMR][1000 genomes]
rs10897497	0.82[AMR][1000 genomes]
rs11231781	0.83[AMR][1000 genomes]
rs1198935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2840342	0.82[AMR][1000 genomes]
rs34104296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs534874	0.92[CEU][hapmap];0.87[CHB][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs544761	1.00[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs550840	0.82[JPT][hapmap]
rs553587	0.88[CEU][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs606063	0.92[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670837	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7124943	0.80[AMR][1000 genomes]
rs7130280	0.84[CEU][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs750831	0.82[AMR][1000 genomes]
rs7936395	0.91[AMR][1000 genomes]
rs7936860	0.80[AMR][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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs682848	FKBP2	cis	parietal	SCAN
rs682848	RPS6KA4	cis	multi-tissue	Pritchard
rs682848	VPS37C	cis	parietal	SCAN
rs682848	ESRRA	cis	cerebellum	SCAN
rs682848	KAT5	cis	parietal	SCAN
rs682848	FLRT1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64197200-64201600	Weak transcription	Fetal Brain Male	brain
2	chr11:64198200-64203800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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