Variant report

Variant	rs2365315
Chromosome Location	chr12:60215034-60215035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10431557	0.83[CEU][hapmap]
rs10506398	0.83[CEU][hapmap]
rs10506399	0.84[LWK][hapmap];0.94[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs10877352	0.84[ASN][1000 genomes]
rs11173126	0.82[CHD][hapmap];0.85[TSI][hapmap]
rs11173158	0.91[AFR][1000 genomes]
rs11173169	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173171	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173189	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11173197	0.84[ASN][1000 genomes]
rs11173199	0.83[ASN][1000 genomes]
rs11173200	0.82[ASN][1000 genomes]
rs11173201	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11173202	0.82[ASN][1000 genomes]
rs12049943	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231693	0.82[CHD][hapmap]
rs12298637	0.84[ASN][1000 genomes]
rs17572877	0.93[AFR][1000 genomes]
rs17572912	0.93[AFR][1000 genomes]
rs17650311	0.82[CHD][hapmap]
rs2365314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365317	0.93[AFR][1000 genomes]
rs2365318	0.93[AFR][1000 genomes]
rs34639075	0.93[AFR][1000 genomes]
rs35218918	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35365387	0.86[AFR][1000 genomes]
rs35971116	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763980	0.84[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs4387384	0.84[ASN][1000 genomes]
rs4412789	0.83[ASN][1000 genomes]
rs4417320	0.84[ASN][1000 genomes]
rs4539371	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4623939	0.82[ASN][1000 genomes]
rs4758741	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4758846	0.83[ASN][1000 genomes]
rs56098460	0.82[ASN][1000 genomes]
rs56682442	0.92[AFR][1000 genomes]
rs7303876	0.85[TSI][hapmap]
rs7975905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979504	0.93[AFR][1000 genomes]
rs9788077	0.93[AFR][1000 genomes]

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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2365315	AVIL	cis	cerebellum	SCAN
rs2365315	GPR84	cis	cerebellum	SCAN
rs2365315	ERBB3	cis	parietal	SCAN
rs2365315	KIF5A	cis	cerebellum	SCAN
rs2365315	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL
rs2365315	SLC16A7	cis	multi-tissue	Pritchard
rs2365315	OR6C6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60213800-60215800	Enhancers	NHDF-Ad	bronchial
2	chr12:60214600-60215200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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