Variant report

Variant	rs6727412
Chromosome Location	chr2:98986510-98986511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12467200	0.87[YRI][hapmap]
rs13418293	1.00[CHD][hapmap]
rs34118499	0.87[EUR][1000 genomes]
rs3769744	1.00[CHB][hapmap]
rs55690937	1.00[ASN][1000 genomes]
rs55763646	1.00[ASN][1000 genomes]
rs55869498	1.00[ASN][1000 genomes]
rs56112202	1.00[ASN][1000 genomes]
rs56289599	1.00[ASN][1000 genomes]
rs56859980	1.00[ASN][1000 genomes]
rs57502811	1.00[ASN][1000 genomes]
rs57738681	1.00[ASN][1000 genomes]
rs58799739	1.00[ASN][1000 genomes]
rs59040049	1.00[ASN][1000 genomes]
rs62156307	1.00[ASN][1000 genomes]
rs62156315	1.00[ASN][1000 genomes]
rs62156316	1.00[ASN][1000 genomes]
rs6714528	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732568	1.00[ASN][1000 genomes]
rs6732654	1.00[ASN][1000 genomes]
rs6734225	1.00[ASN][1000 genomes]
rs867588	0.85[LWK][hapmap]
rs937729	0.80[LWK][hapmap]

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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1010466	chr2:98938886-98998109	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013617	chr2:98943377-99004173	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6727412	ANKRD39	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98979200-98991400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:98983200-98993400	Weak transcription	Fetal Brain Female	brain
3	chr2:98985200-98991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:98986000-98992800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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