Variant report

Variant	rs9595996
Chromosome Location	chr13:49344250-49344251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr13:49343032-49344307	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49342669..49345130-chr13:49347475..49349741,3	K562	blood:
2	chr13:49342359..49344964-chr13:49345478..49349332,4	K562	blood:

Variant related genes	Relation type
PSME2P2	TF binding region
ENSG00000225131	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12184837	0.91[ASN][1000 genomes]
rs17072179	0.80[ASN][1000 genomes]
rs17072181	0.83[ASN][1000 genomes]
rs2147808	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28445170	0.80[ASN][1000 genomes]
rs41448845	0.88[ASN][1000 genomes]
rs56686141	0.91[ASN][1000 genomes]
rs56828527	0.91[ASN][1000 genomes]
rs59643165	0.91[ASN][1000 genomes]
rs6561478	0.80[EUR][1000 genomes]
rs7319904	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7327830	0.80[ASN][1000 genomes]
rs73480212	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73480214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73480251	0.91[ASN][1000 genomes]
rs73484311	0.91[ASN][1000 genomes]
rs73484314	0.91[ASN][1000 genomes]
rs895967	1.00[ASN][1000 genomes]
rs895968	0.91[ASN][1000 genomes]
rs9591207	0.80[ASN][1000 genomes]
rs9591208	0.83[ASN][1000 genomes]
rs9591209	0.80[ASN][1000 genomes]
rs9591210	1.00[ASN][1000 genomes]
rs9591211	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9595985	0.80[ASN][1000 genomes]
rs9595986	0.80[ASN][1000 genomes]
rs9595987	0.80[ASN][1000 genomes]
rs9595989	0.83[ASN][1000 genomes]
rs9595990	0.83[ASN][1000 genomes]
rs9595993	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs9595994	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596009	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1044086	chr13:49331713-49350131	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49343000-49344400	Enhancers	Hela-S3	cervix
2	chr13:49343600-49345800	Weak transcription	Dnd41	blood
3	chr13:49343800-49346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:49344000-49349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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