Variant report

Variant	rs17132911
Chromosome Location	chr11:73995696-73995697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73994107..73996147-chr11:74030507..74033289,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10488770	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10488771	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10501413	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10501414	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12291090	0.86[ASN][1000 genomes]
rs12416880	1.00[CEU][hapmap]
rs12417457	1.00[CEU][hapmap]
rs12417835	1.00[CEU][hapmap]
rs12418009	1.00[CEU][hapmap]
rs12421228	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421595	1.00[CEU][hapmap]
rs12794753	0.86[ASN][1000 genomes]
rs17132721	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132796	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132801	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132816	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132818	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132826	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132836	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132837	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132846	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132855	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132864	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132870	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132881	1.00[JPT][hapmap]
rs17132882	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132891	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132914	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132921	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132931	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132947	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132965	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132991	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs17133043	1.00[JPT][hapmap]
rs17160052	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2154971	0.86[ASN][1000 genomes]
rs2186561	0.86[ASN][1000 genomes]
rs34895949	0.86[ASN][1000 genomes]
rs3897548	1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[ASN][1000 genomes]
rs4121666	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs41349744	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4489773	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4575301	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs512641	1.00[JPT][hapmap]
rs530709	1.00[CEU][hapmap]
rs55814391	0.86[ASN][1000 genomes]
rs56142225	0.86[ASN][1000 genomes]
rs56171120	0.86[ASN][1000 genomes]
rs56343229	0.86[ASN][1000 genomes]
rs56808069	0.86[ASN][1000 genomes]
rs56984031	0.86[ASN][1000 genomes]
rs57115412	0.86[ASN][1000 genomes]
rs57384187	0.86[ASN][1000 genomes]
rs57393325	0.86[ASN][1000 genomes]
rs57642592	0.86[ASN][1000 genomes]
rs58102808	0.86[ASN][1000 genomes]
rs58421256	0.86[ASN][1000 genomes]
rs58898896	0.86[ASN][1000 genomes]
rs60044681	0.86[ASN][1000 genomes]
rs60206858	0.86[ASN][1000 genomes]
rs60218608	0.86[ASN][1000 genomes]
rs60219367	0.86[ASN][1000 genomes]
rs60981452	0.86[ASN][1000 genomes]
rs61132076	0.86[ASN][1000 genomes]
rs644910	0.83[EUR][1000 genomes]
rs6592549	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6592550	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7106817	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7107268	0.86[ASN][1000 genomes]
rs7110062	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7113898	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7120763	1.00[CEU][hapmap]
rs7126696	0.86[ASN][1000 genomes]
rs7127358	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7129659	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7129774	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs73549014	0.86[ASN][1000 genomes]
rs73549059	0.86[ASN][1000 genomes]
rs73549071	0.86[ASN][1000 genomes]
rs73550730	0.86[ASN][1000 genomes]
rs73550751	0.86[ASN][1000 genomes]
rs73550754	0.86[ASN][1000 genomes]
rs73550755	0.86[ASN][1000 genomes]
rs73550761	0.86[ASN][1000 genomes]
rs73550769	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550772	0.86[ASN][1000 genomes]
rs73561882	0.86[ASN][1000 genomes]
rs73561885	0.86[ASN][1000 genomes]
rs73565826	0.86[ASN][1000 genomes]
rs73565828	0.86[ASN][1000 genomes]
rs73565829	0.86[ASN][1000 genomes]
rs73565839	0.86[ASN][1000 genomes]
rs73565840	0.86[ASN][1000 genomes]
rs73565842	0.86[ASN][1000 genomes]
rs7924965	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7925320	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7925695	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7926891	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7943916	0.86[ASN][1000 genomes]
rs7947458	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs947840	1.00[JPT][hapmap];0.86[ASN][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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17132911	PGM2L1	Cis_1M	lymphoblastoid	RTeQTL
rs17132911	FABP4	trans	brain	seeQTL
rs17132911	PGM2L1	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73990400-73998800	Weak transcription	HUVEC	blood vessel
2	chr11:73990600-73998800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73990600-73999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:73990600-73999400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73991000-73998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:73992000-73999200	Weak transcription	Aorta	Aorta
7	chr11:73993000-73996000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:73993400-73996000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:73993400-73996000	Enhancers	NHLF	lung
10	chr11:73993600-73996000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:73994000-73996000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:73994000-73996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:73994000-73996000	Enhancers	NHDF-Ad	bronchial
14	chr11:73994200-73996000	Enhancers	HSMM	muscle
15	chr11:73994600-73996000	Enhancers	Pancreas	Pancrea
16	chr11:73995200-73996000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:73995200-73996800	Weak transcription	Hela-S3	cervix
18	chr11:73995200-73999200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:73995400-73996400	Enhancers	A549	lung
20	chr11:73995400-73999000	Weak transcription	NH-A	brain
21	chr11:73995400-73999000	Weak transcription	Osteobl	bone
22	chr11:73995400-73999200	Weak transcription	Stomach Mucosa	stomach
23	chr11:73995600-73998200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:73995600-73998800	Weak transcription	Muscle Satellite Cultured Cells	--

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