Variant report

Variant	rs73119913
Chromosome Location	chr12:40918443-40918444
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	SPI1	chr12:40918138-40918518	HL-60	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN1-1	chr12:40918318-40919423	XLOC_009713
2	lnc-CNTN1-1	chr12:40918318-40919423	NONHSAT027733

Variant related genes	Relation type
MUC19	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10784813	1.00[ASN][1000 genomes]
rs1348509	1.00[ASN][1000 genomes]
rs1373424	1.00[ASN][1000 genomes]
rs1444203	1.00[ASN][1000 genomes]
rs1444204	1.00[ASN][1000 genomes]
rs17128385	1.00[ASN][1000 genomes]
rs17128536	1.00[ASN][1000 genomes]
rs17444542	1.00[ASN][1000 genomes]
rs17444612	1.00[ASN][1000 genomes]
rs17492082	1.00[ASN][1000 genomes]
rs17492138	1.00[ASN][1000 genomes]
rs1816856	1.00[ASN][1000 genomes]
rs1992607	1.00[ASN][1000 genomes]
rs2114567	1.00[ASN][1000 genomes]
rs2120599	1.00[ASN][1000 genomes]
rs2405018	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55736346	1.00[ASN][1000 genomes]
rs55775102	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56032335	1.00[ASN][1000 genomes]
rs56245194	1.00[ASN][1000 genomes]
rs56322620	1.00[ASN][1000 genomes]
rs56383533	1.00[ASN][1000 genomes]
rs57997594	1.00[ASN][1000 genomes]
rs59066229	1.00[ASN][1000 genomes]
rs6581906	1.00[ASN][1000 genomes]
rs73094605	1.00[ASN][1000 genomes]
rs73100409	1.00[ASN][1000 genomes]
rs73100414	1.00[ASN][1000 genomes]
rs73110067	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73110075	1.00[ASN][1000 genomes]
rs73115378	1.00[ASN][1000 genomes]
rs73115394	1.00[ASN][1000 genomes]
rs73115401	1.00[ASN][1000 genomes]
rs73117512	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73123118	1.00[ASN][1000 genomes]
rs73123119	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73123140	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7314530	1.00[ASN][1000 genomes]
rs73279554	1.00[ASN][1000 genomes]
rs73279557	1.00[ASN][1000 genomes]
rs74078532	1.00[ASN][1000 genomes]
rs7484715	1.00[ASN][1000 genomes]
rs7959703	1.00[ASN][1000 genomes]
rs9705735	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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv8970	chr12:40904094-40951213	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3388339	chr12:40917344-40931738	Enhancers Weak transcription	TF binding region lncRNA	13 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	chr12:40915600-40919400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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