Variant report

Variant	rs1514140
Chromosome Location	chr1:56136068-56136069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10888938	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1514139	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1533318	0.90[CEU][hapmap]
rs2137830	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2175861	0.84[ASN][1000 genomes]
rs2671235	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2671246	0.87[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2671258	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2767501	0.93[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2767505	0.89[ASN][1000 genomes]
rs2767511	0.81[CHD][hapmap]
rs2767512	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2767517	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2819470	0.93[ASN][1000 genomes]
rs2819471	0.93[ASN][1000 genomes]
rs2819483	0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7518530	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436523	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1514140	ZYG11B	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56134400-56136400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56134400-56136800	Enhancers	Fetal Stomach	stomach
3	chr1:56134600-56136600	Enhancers	Colon Smooth Muscle	Colon
4	chr1:56134600-56136800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:56134600-56137000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:56134600-56137000	Enhancers	Ovary	ovary
7	chr1:56134600-56137600	Enhancers	Fetal Lung	lung
8	chr1:56134600-56137600	Enhancers	NHDF-Ad	bronchial
9	chr1:56135000-56136200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:56135000-56136600	Enhancers	Fetal Muscle Leg	muscle
11	chr1:56135200-56136800	Enhancers	HSMM	muscle
12	chr1:56135200-56136800	Enhancers	NHLF	lung
13	chr1:56135400-56136200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:56135400-56136200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:56135400-56136800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:56135600-56136200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:56135600-56136800	Enhancers	Brain Angular Gyrus	brain
18	chr1:56135600-56136800	Enhancers	Psoas Muscle	Psoas
19	chr1:56135600-56139000	Weak transcription	Fetal Heart	heart
20	chr1:56135800-56136200	Enhancers	Osteobl	bone
21	chr1:56135800-56138600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:56135800-56139000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:56135800-56162000	Weak transcription	Aorta	Aorta
24	chr1:56136000-56136400	Enhancers	HepG2	liver
25	chr1:56136000-56136800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:56136000-56136800	Enhancers	Brain Cingulate Gyrus	brain

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