Variant report

Variant	rs1105123
Chromosome Location	chr1:94592290-94592291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11583999	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17394161	0.86[AMR][1000 genomes]
rs17398377	0.90[CEU][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2184339	0.84[AMR][1000 genomes]
rs3789441	0.82[TSI][hapmap]
rs4847198	0.84[EUR][1000 genomes]
rs71652552	0.83[AMR][1000 genomes]
rs7535005	0.85[CEU][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][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	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv871679	chr1:94579426-94598568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1105123	DPYD	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94587000-94592400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:94588600-94595000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:94588600-94596400	Weak transcription	Osteobl	bone
4	chr1:94588600-94596600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:94591400-94592400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:94591400-94592400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:94591400-94592400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:94591400-94592400	Enhancers	Adipose Nuclei	Adipose
9	chr1:94591600-94592400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:94591600-94592400	Flanking Active TSS	HepG2	liver
11	chr1:94591600-94592400	Enhancers	HSMMtube	muscle
12	chr1:94591800-94592400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:94591800-94592400	Enhancers	HSMM	muscle
14	chr1:94591800-94593200	Enhancers	HUVEC	blood vessel
15	chr1:94592000-94592400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:94592000-94593000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:94592000-94595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:94592000-94595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:94592000-94596600	Weak transcription	Placenta	Placenta
20	chr1:94592000-94596800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:94592000-94596800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:94592000-94597000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:94592200-94596400	Weak transcription	Fetal Kidney	kidney
24	chr1:94592200-94596800	Weak transcription	Liver	Liver

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