Variant report

Variant	rs10493195
Chromosome Location	chr1:56053042-56053043
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1039294	0.84[CEU][hapmap]
rs10493193	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10493194	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11206626	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11206627	0.98[EUR][1000 genomes]
rs11206635	0.92[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11206649	0.85[CEU][hapmap]
rs11801001	0.92[CEU][hapmap]
rs11805740	0.92[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12116670	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12117758	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12125730	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12139482	1.00[CEU][hapmap];0.89[MEX][hapmap]
rs17418048	0.85[CEU][hapmap]
rs17418151	0.85[CEU][hapmap]
rs17452287	0.85[CEU][hapmap]
rs1846562	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1846563	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61566671	0.98[EUR][1000 genomes]
rs6588567	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs6670673	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs6680818	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6681925	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6694680	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694786	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519540	0.85[CEU][hapmap]
rs7548272	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs7549716	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550575	0.85[CEU][hapmap]
rs769970	0.98[EUR][1000 genomes]
rs769989	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10493195	CPT2	cis	cerebellum	SCAN
rs10493195	ZYG11A	cis	parietal	SCAN
rs10493195	GLIS1	cis	cerebellum	SCAN
rs10493195	DAB1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56049600-56053200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:56050600-56055400	Weak transcription	Ovary	ovary
4	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
5	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:56051000-56055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:56051200-56053800	Weak transcription	Fetal Lung	lung
9	chr1:56051200-56053800	Weak transcription	NHDF-Ad	bronchial
10	chr1:56051200-56054400	Weak transcription	Osteobl	bone
11	chr1:56051200-56055200	Weak transcription	Adipose Nuclei	Adipose
12	chr1:56051200-56055200	Weak transcription	HSMM	muscle
13	chr1:56051200-56055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart
15	chr1:56051400-56053800	Weak transcription	Fetal Stomach	stomach
16	chr1:56051400-56054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:56051400-56054000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:56051400-56055400	Weak transcription	NHLF	lung
19	chr1:56052000-56053200	Enhancers	Aorta	Aorta
20	chr1:56052000-56053200	Enhancers	HMEC	breast
21	chr1:56052200-56053800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:56052400-56053200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:56052600-56053200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:56052600-56057800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:56052800-56053800	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:56052800-56053800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:56052800-56055000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:56052800-56055400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:56052800-56055400	Weak transcription	Left Ventricle	heart
30	chr1:56052800-56055400	Weak transcription	Psoas Muscle	Psoas
31	chr1:56052800-56055400	Weak transcription	Right Atrium	heart
32	chr1:56052800-56060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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