Variant report

Variant	rs9857275
Chromosome Location	chr3:141078188-141078189
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141028623..141032743-chr3:141076399..141079995,4	K562	blood:
2	chr3:141076150..141079079-chr3:141205121..141206716,2	K562	blood:
3	chr3:141075490..141079205-chr3:141079286..141082614,3	K562	blood:
4	chr3:141069302..141073893-chr3:141077867..141081931,7	K562	blood:
5	chr3:141076394..141078652-chr3:141204569..141207360,2	K562	blood:
6	chr3:141071211..141074969-chr3:141075130..141079679,8	K562	blood:
7	chr3:141075968..141078479-chr3:141083365..141086953,3	K562	blood:
8	chr3:141050275..141052450-chr3:141077492..141079872,2	MCF-7	breast:
9	chr3:141074101..141082527-chr3:141083011..141090165,19	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000155903	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13065569	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13066993	0.92[CEU][hapmap]
rs13091182	0.92[CEU][hapmap]
rs13095453	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13099193	0.92[CEU][hapmap]
rs13100711	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1511380	0.80[GIH][hapmap]
rs2011092	0.92[CEU][hapmap]
rs34169305	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6767899	0.92[CEU][hapmap];0.80[MEX][hapmap]
rs6781636	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs6785073	0.92[CEU][hapmap];0.80[MEX][hapmap]
rs6789653	0.92[CEU][hapmap]
rs726838	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9821337	0.92[CEU][hapmap]
rs9822195	0.92[CEU][hapmap];0.80[MEX][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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Prion diseases	22210626	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9857275	ATP1B3	cis	cerebellum	SCAN
rs9857275	RASA2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141056400-141079400	Weak transcription	A549	lung
2	chr3:141064600-141080400	Weak transcription	Colonic Mucosa	Colon
3	chr3:141065800-141085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:141066400-141079600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:141066600-141079200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:141066800-141079000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:141067800-141079400	Weak transcription	NHLF	lung
8	chr3:141070600-141079000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:141073400-141078200	Strong transcription	Fetal Intestine Large	intestine
10	chr3:141073600-141079000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:141074600-141079600	Weak transcription	Placenta	Placenta
12	chr3:141075200-141078200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:141075200-141079400	Weak transcription	HUVEC	blood vessel
14	chr3:141075400-141079400	Weak transcription	HepG2	liver
15	chr3:141075400-141079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:141075600-141078200	Strong transcription	Fetal Intestine Small	intestine
17	chr3:141075600-141079000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:141077000-141079800	Enhancers	K562	blood
19	chr3:141077600-141085400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:141077800-141078200	Weak transcription	Right Atrium	heart

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