Variant report

Variant	rs13095453
Chromosome Location	chr3:141074962-141074963
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141071211..141074969-chr3:141075130..141079679,8	K562	blood:
2	chr3:141070925..141073328-chr3:141073494..141076643,3	MCF-7	breast:
3	chr3:141065346..141067226-chr3:141073466..141076149,2	K562	blood:
4	chr3:141062498..141065026-chr3:141073519..141075054,2	K562	blood:
5	chr3:141074675..141076936-chr3:141087556..141089144,2	K562	blood:
6	chr3:141050331..141052397-chr3:141073866..141075575,2	K562	blood:
7	chr3:141074101..141082527-chr3:141083011..141090165,19	K562	blood:
8	chr3:141062169..141064184-chr3:141073494..141075542,2	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13065569	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13066993	0.92[CEU][hapmap]
rs13091182	0.92[CEU][hapmap]
rs13099193	0.92[CEU][hapmap]
rs13100711	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1511380	0.80[GIH][hapmap]
rs2011092	0.92[CEU][hapmap]
rs34169305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6767899	0.92[CEU][hapmap];0.80[MEX][hapmap]
rs6781636	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs6785073	0.92[CEU][hapmap];0.80[MEX][hapmap]
rs6789653	0.92[CEU][hapmap]
rs726838	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9821337	0.92[CEU][hapmap]
rs9822195	0.92[CEU][hapmap];0.80[MEX][hapmap]
rs9857275	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]

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	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
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13095453	ATP1B3	cis	cerebellum	SCAN
rs13095453	RASA2	cis	cerebellum	SCAN

Chromatin state (count:16 , 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	chr3:141070200-141075600	Genic enhancers	Fetal Intestine Small	intestine
9	chr3:141070600-141079000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:141071800-141075400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:141072600-141075200	Enhancers	K562	blood
12	chr3:141073400-141078200	Strong transcription	Fetal Intestine Large	intestine
13	chr3:141073600-141079000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:141074200-141075400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:141074600-141079600	Weak transcription	Placenta	Placenta
16	chr3:141074800-141075200	Enhancers	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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