Variant report

Variant	rs17441214
Chromosome Location	chr12:118874526-118874527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118862531..118864605-chr12:118873789..118875606,2	MCF-7	breast:
2	chr12:118873972..118874726-chr12:119474831..119475363,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1060964	1.00[CEU][hapmap];1.00[CHB][hapmap];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]
rs16948197	0.93[CEU][hapmap];1.00[CHB][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]
rs17440774	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17440823	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes]
rs17440893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17440942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17440956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441033	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441047	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441075	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17441172	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441251	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs17512483	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17512525	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17512574	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs17512609	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes]
rs17512652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17513006	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513013	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17619932	0.93[CEU][hapmap]
rs1909617	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2055534	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2062519	1.00[CEU][hapmap]
rs2393403	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2393415	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393416	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs2893771	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4406856	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4457791	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766899	1.00[CEU][hapmap]
rs4766900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4767669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs507517	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55659011	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55842338	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55929628	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56133316	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56157623	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56190986	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56275187	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.81[AMR][1000 genomes]
rs56347775	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943367	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943368	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943385	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943388	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943389	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943391	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943392	1.00[ASN][1000 genomes]
rs61943393	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943397	1.00[ASN][1000 genomes]
rs61943399	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943400	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943401	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943402	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943403	1.00[ASN][1000 genomes]
rs61943404	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943405	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943406	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943443	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61943444	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943447	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943451	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943452	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943454	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943455	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943456	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943457	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490173	0.93[CEU][hapmap]
rs6490177	1.00[CEU][hapmap]
rs673078	1.00[CHB][hapmap]
rs7132753	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7136676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137055	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137184	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7294498	1.00[CEU][hapmap]
rs7295288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7299040	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7302387	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs7303417	0.93[CEU][hapmap]
rs7304342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7305647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7309484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7309671	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7312555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314987	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs73205576	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73205579	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73205594	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73207504	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207564	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207566	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958551	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7958652	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7961312	0.93[CEU][hapmap];1.00[CHB][hapmap]
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];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7968011	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7974718	0.80[CEU][hapmap]
rs882927	1.00[ASN][1000 genomes]
rs884844	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs950288	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs965524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][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
rs17441214	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 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	chr12:118873800-118874600	Enhancers	Left Ventricle	heart
3	chr12:118873800-118876000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:118874000-118874600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:118874000-118875800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:118874000-118876000	Enhancers	NHDF-Ad	bronchial
7	chr12:118874200-118874600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:118874200-118874600	Enhancers	Right Ventricle	heart
9	chr12:118874200-118874600	Enhancers	HSMMtube	muscle
10	chr12:118874200-118875200	Enhancers	HSMM	muscle
11	chr12:118874400-118874600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr12:118874400-118874800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:118874400-118875400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:118874400-118875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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