Variant report

Variant	rs1884093
Chromosome Location	chr14:63713182-63713183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10135991	0.81[CEU][hapmap];0.92[EUR][1000 genomes]
rs10138015	0.95[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10145453	0.82[CEU][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs10150464	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10483766	0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs17100922	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17100931	0.81[CEU][hapmap];0.93[EUR][1000 genomes]
rs17100932	0.92[EUR][1000 genomes]
rs17224610	0.94[EUR][1000 genomes]
rs17824443	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2057133	0.91[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs2057134	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs58021284	0.80[AFR][1000 genomes]
rs6573499	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573500	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7144902	0.94[EUR][1000 genomes]
rs7145040	0.91[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs7151486	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154910	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7157513	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs769055	0.86[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs8003569	0.91[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs8007945	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012836	0.82[CEU][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs8013068	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1884093	SIX1	cis	cerebellum	SCAN
rs1884093	FLJ43390	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63672000-63717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:63679400-63717000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:63691200-63716800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:63699600-63716600	Weak transcription	Fetal Lung	lung
6	chr14:63700200-63714800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:63702000-63715200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:63703400-63716000	Weak transcription	Psoas Muscle	Psoas
10	chr14:63706400-63713400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:63707200-63715400	Weak transcription	Right Atrium	heart
12	chr14:63708000-63720000	Weak transcription	Adipose Nuclei	Adipose
13	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
14	chr14:63708400-63714400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:63711800-63716000	Genic enhancers	HUVEC	blood vessel
16	chr14:63712200-63713800	Enhancers	Fetal Stomach	stomach
17	chr14:63712400-63713600	Enhancers	Fetal Heart	heart
18	chr14:63712400-63714000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:63712400-63716800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr14:63712400-63716800	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:63712600-63715200	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:63712800-63714000	Enhancers	Colon Smooth Muscle	Colon
23	chr14:63712800-63714200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:63712800-63714200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr14:63712800-63714400	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:63712800-63715400	Weak transcription	Fetal Muscle Leg	muscle
27	chr14:63712800-63715400	Weak transcription	Ovary	ovary
28	chr14:63713000-63715200	Weak transcription	NH-A	brain
29	chr14:63713000-63715600	Weak transcription	Aorta	Aorta

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