Variant report

Variant	rs17513006
Chromosome Location	chr12:118878188-118878189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1060964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850967	1.00[CEU][hapmap]
rs11068891	0.93[CEU][hapmap]
rs11068908	0.93[CEU][hapmap]
rs11068917	0.93[CEU][hapmap]
rs11068919	1.00[CEU][hapmap]
rs12229607	0.93[CEU][hapmap]
rs16948204	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs16948230	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs16948234	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs16948250	1.00[CEU][hapmap]
rs17440669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs17440774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs17440823	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17440893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441033	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441214	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes]
rs17512483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes]
rs17512525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs17512574	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs17512609	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17512652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619932	0.93[CEU][hapmap]
rs1909617	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2055534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062519	1.00[CEU][hapmap]
rs2393403	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes]
rs2893771	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3852531	0.81[AFR][1000 genomes]
rs4406856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	1.00[CEU][hapmap]
rs4766900	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55659011	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56080343	0.90[EUR][1000 genomes]
rs56133316	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	1.00[ASN][1000 genomes]
rs56275187	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56347775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943362	0.81[AFR][1000 genomes]
rs61943364	0.91[AFR][1000 genomes]
rs61943367	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943385	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943388	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943392	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943393	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943399	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943404	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	0.81[AFR][1000 genomes]
rs61945192	0.91[AFR][1000 genomes]
rs61945212	0.91[AFR][1000 genomes]
rs61945217	0.81[AFR][1000 genomes]
rs61945220	0.91[AFR][1000 genomes]
rs61945221	0.91[AFR][1000 genomes]
rs61945223	0.81[AFR][1000 genomes]
rs61945224	0.81[AFR][1000 genomes]
rs61945225	0.81[AFR][1000 genomes]
rs61946067	0.91[AFR][1000 genomes]
rs61946068	0.91[AFR][1000 genomes]
rs6490173	0.93[CEU][hapmap]
rs6490177	1.00[CEU][hapmap]
rs673078	1.00[CHB][hapmap];0.83[AFR][1000 genomes]
rs7132753	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294498	1.00[CEU][hapmap]
rs7295288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302387	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes]
rs7303417	0.93[CEU][hapmap]
rs7304342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs7309484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs7312555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314987	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes]
rs73205531	0.91[AFR][1000 genomes]
rs73205576	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73205594	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7958652	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7960802	0.81[AFR][1000 genomes]
rs7961312	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AFR][1000 genomes]
rs7962185	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7965350	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs7967900	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974718	0.80[CEU][hapmap]
rs882927	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884844	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs950288	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943819	0.93[CEU][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17513006	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

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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