Variant report

Variant	rs7907957
Chromosome Location	chr10:45744479-45744480
allele	C/T
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	CTCF	chr10:45744440-45746212	SK-N-SH	brain:	n/a	chr10:45745687-45745705 chr10:45745689-45745710 chr10:45745688-45745704 chr10:45745692-45745700
2	ZNF263	chr10:45744393-45744800	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45499571..45502259-chr10:45742998..45745677,2	K562	blood:

Variant related genes	Relation type
CUBNP2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1011388	0.89[ASN][1000 genomes]
rs1073450	0.87[ASN][1000 genomes]
rs1073451	0.87[ASN][1000 genomes]
rs10900192	0.89[ASN][1000 genomes]
rs1122801	0.95[ASN][1000 genomes]
rs11239400	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11239406	0.87[ASN][1000 genomes]
rs11239411	0.85[ASN][1000 genomes]
rs11597509	0.87[ASN][1000 genomes]
rs1339748	0.99[ASN][1000 genomes]
rs1578204	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1578205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1836467	0.86[ASN][1000 genomes]
rs1897891	0.86[ASN][1000 genomes]
rs1897892	0.86[ASN][1000 genomes]
rs2153332	0.83[AMR][1000 genomes]
rs2163190	0.83[ASN][1000 genomes]
rs34650304	0.86[ASN][1000 genomes]
rs4948662	0.87[ASN][1000 genomes]
rs4948976	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4948979	0.89[ASN][1000 genomes]
rs4948983	0.85[ASN][1000 genomes]
rs4948985	0.86[ASN][1000 genomes]
rs61852251	0.86[ASN][1000 genomes]
rs7079089	0.86[ASN][1000 genomes]
rs7086201	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7099002	0.85[ASN][1000 genomes]
rs71494765	0.87[ASN][1000 genomes]
rs7894766	0.87[ASN][1000 genomes]
rs7898089	0.89[ASN][1000 genomes]
rs7909803	0.89[ASN][1000 genomes]
rs7910028	0.89[ASN][1000 genomes]
rs7917466	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750897	chr10:45550145-45820136	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7907957	ALOX5	cis	cerebellum	SCAN
rs7907957	OR13A1	cis	cerebellum	SCAN
rs7907957	ANUBL1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45734800-45745400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr10:45738000-45744800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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