Variant report

Variant	rs2057133
Chromosome Location	chr14:63726382-63726383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10135991	0.90[CEU][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10138015	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs10145453	0.90[CEU][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10150464	0.99[EUR][1000 genomes]
rs10162301	0.81[GIH][hapmap]
rs10483766	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483767	0.81[GIH][hapmap];0.84[MKK][hapmap]
rs17100922	1.00[EUR][1000 genomes]
rs17100931	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17100932	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17100956	0.81[GIH][hapmap]
rs17224610	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17824323	0.94[GIH][hapmap]
rs17824443	0.93[EUR][1000 genomes]
rs1884093	0.91[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs2057134	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573499	0.91[CEU][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes]
rs6573500	0.94[EUR][1000 genomes]
rs7144902	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145040	0.81[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7151486	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs7154910	0.93[EUR][1000 genomes]
rs7157513	0.91[EUR][1000 genomes]
rs718362	0.81[CHD][hapmap];0.94[GIH][hapmap];0.81[TSI][hapmap]
rs769055	0.95[CEU][hapmap];0.94[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003569	0.81[CEU][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs8007945	0.91[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs8012836	0.90[CEU][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8013068	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv564896	chr14:63724121-63726382	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2057133	FLJ43390	cis	parietal	SCAN
rs2057133	SIX1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
4	chr14:63716000-63729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
6	chr14:63716800-63731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:63717400-63730200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
9	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:63717800-63733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:63718800-63728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:63720800-63733800	Weak transcription	NH-A	brain
13	chr14:63721000-63733600	Weak transcription	Lung	lung
14	chr14:63721200-63733600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:63721400-63728400	Weak transcription	Brain Anterior Caudate	brain
16	chr14:63721800-63733600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr14:63723200-63727400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:63723200-63727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:63723600-63732600	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:63724600-63733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:63725200-63729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:63725800-63730400	Weak transcription	Fetal Stomach	stomach
23	chr14:63726000-63726600	Weak transcription	HUVEC	blood vessel

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