Variant report

Variant	rs2893771
Chromosome Location	chr12:118877856-118877857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1060964	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16948204	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs16948230	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs16948234	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs17440669	1.00[CHB][hapmap]
rs17440774	1.00[CHB][hapmap]
rs17440823	1.00[CHB][hapmap]
rs17440893	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441033	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441214	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441251	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	1.00[CHB][hapmap]
rs17512483	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs17512525	1.00[CHB][hapmap]
rs17512574	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs17512609	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];0.80[AMR][1000 genomes]
rs17512652	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512763	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17513006	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1909617	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2055534	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2393403	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2784	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs4406856	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4457791	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4766900	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs4767669	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767672	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55659011	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56133316	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275187	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56347775	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943367	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943385	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943388	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	1.00[ASN][1000 genomes]
rs61943392	1.00[ASN][1000 genomes]
rs61943393	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	1.00[ASN][1000 genomes]
rs61943399	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	1.00[ASN][1000 genomes]
rs61943404	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	1.00[ASN][1000 genomes]
rs61943457	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs673078	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap]
rs7136676	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7295288	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7299040	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7302387	1.00[CHB][hapmap]
rs7304342	1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs7305647	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	1.00[CHB][hapmap]
rs7309484	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs7312555	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7314987	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs73205576	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73205594	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7961312	1.00[CHB][hapmap]
rs7962185	1.00[CHB][hapmap]
rs7965350	1.00[CHB][hapmap]
rs7967900	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs882927	1.00[ASN][1000 genomes]
rs884844	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs950288	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	1.00[CHB][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2893771	SUDS3	cis	cerebellum	SCAN
rs2893771	SUDS3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118871200-118881800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118876000-118879800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:118877800-118878400	Enhancers	NHDF-Ad	bronchial

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