Variant report

Variant	rs2398749
Chromosome Location	chr9:95153668-95153669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10125510	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058726	0.83[EUR][1000 genomes]
rs1058751	0.83[EUR][1000 genomes]
rs10733744	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761159	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144933	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1152760	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1152761	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1152762	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1175737	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1175923	0.83[EUR][1000 genomes]
rs1175930	0.83[EUR][1000 genomes]
rs11787696	0.85[EUR][1000 genomes]
rs11789578	0.85[EUR][1000 genomes]
rs11792542	0.83[EUR][1000 genomes]
rs11793505	0.83[EUR][1000 genomes]
rs2084289	0.83[EUR][1000 genomes]
rs2295939	0.86[EUR][1000 genomes]
rs2296665	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230223	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2761680	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280213	0.85[EUR][1000 genomes]
rs41280215	0.85[EUR][1000 genomes]
rs472163	0.85[EUR][1000 genomes]
rs4743867	0.83[EUR][1000 genomes]
rs4743868	0.85[EUR][1000 genomes]
rs4743871	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4744124	0.83[EUR][1000 genomes]
rs4744125	0.83[EUR][1000 genomes]
rs501814	0.84[EUR][1000 genomes]
rs557066	0.86[EUR][1000 genomes]
rs55894730	0.85[EUR][1000 genomes]
rs56374228	0.85[EUR][1000 genomes]
rs6479421	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042199	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864453	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895639	0.85[EUR][1000 genomes]
rs9409464	0.85[EUR][1000 genomes]
rs9409465	0.84[EUR][1000 genomes]
rs9409467	0.85[EUR][1000 genomes]
rs9409469	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9409659	0.85[EUR][1000 genomes]
rs9409660	0.85[EUR][1000 genomes]
rs9409661	0.85[EUR][1000 genomes]
rs9409662	0.83[EUR][1000 genomes]
rs9409665	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9409666	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs944949	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1053205	chr9:95119195-95182612	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95139000-95163200	Weak transcription	Aorta	Aorta
2	chr9:95142000-95159400	Weak transcription	Fetal Intestine Large	intestine
3	chr9:95142200-95165600	Weak transcription	Fetal Thymus	thymus
4	chr9:95144200-95158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:95145000-95163800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:95147600-95155000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:95148000-95164000	Weak transcription	Adipose Nuclei	Adipose
8	chr9:95148400-95156000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:95148400-95158800	Weak transcription	Ovary	ovary
10	chr9:95148400-95163800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:95152400-95153800	Strong transcription	Fetal Lung	lung
12	chr9:95153000-95155000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:95153000-95155600	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:95153400-95154200	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:95153400-95154600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:95153600-95154600	Weak transcription	Fetal Stomach	stomach

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