Variant report

Variant	rs17257496
Chromosome Location	chr4:127480378-127480379
allele	A/C
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	POLR2A	chr4:127479655-127480445	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127469237..127471666-chr4:127479699..127481788,2	K562	blood:
2	chr4:127478794..127481911-chr4:127483594..127487154,3	K562	blood:

Variant related genes	Relation type
RBM48P1	TF binding region
ENSG00000223620	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10518503	1.00[ASN][1000 genomes]
rs1167191	1.00[ASN][1000 genomes]
rs1167193	1.00[ASN][1000 genomes]
rs11736466	1.00[ASN][1000 genomes]
rs12648553	1.00[ASN][1000 genomes]
rs1503629	1.00[ASN][1000 genomes]
rs1511136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198369	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17202524	1.00[ASN][1000 genomes]
rs17258200	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17259504	1.00[ASN][1000 genomes]
rs17262874	1.00[ASN][1000 genomes]
rs192855	1.00[ASN][1000 genomes]
rs220087	1.00[ASN][1000 genomes]
rs2202278	1.00[ASN][1000 genomes]
rs2637572	1.00[ASN][1000 genomes]
rs2637574	1.00[ASN][1000 genomes]
rs2969612	1.00[ASN][1000 genomes]
rs313068	1.00[ASN][1000 genomes]
rs313073	1.00[ASN][1000 genomes]
rs313074	1.00[ASN][1000 genomes]
rs313078	1.00[ASN][1000 genomes]
rs313079	1.00[ASN][1000 genomes]
rs313080	1.00[ASN][1000 genomes]
rs313093	1.00[ASN][1000 genomes]
rs313113	1.00[ASN][1000 genomes]
rs313114	1.00[ASN][1000 genomes]
rs313117	1.00[ASN][1000 genomes]
rs313122	1.00[ASN][1000 genomes]
rs313125	1.00[ASN][1000 genomes]
rs313128	1.00[ASN][1000 genomes]
rs386871	1.00[ASN][1000 genomes]
rs411063	1.00[ASN][1000 genomes]
rs433919	1.00[ASN][1000 genomes]
rs443349	1.00[ASN][1000 genomes]
rs450760	1.00[ASN][1000 genomes]
rs4834138	1.00[ASN][1000 genomes]
rs6818047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830681	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672599	1.00[ASN][1000 genomes]
rs7682805	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951783	1.00[ASN][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	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127474800-127493400	Weak transcription	K562	blood

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